1,698 results on '"Ovarian Teratoma"'
Search Results
2. Anti-NMDAR encephalitis with delayed ovarian teratoma in a young woman: a case report with 5 years of follow-up
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Hailong Xue, Junhao Hu, Yingge Chen, Wenbin Huang, Haoling Liu, Hongli Xu, and Ming Shi
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Anti-NMDAR encephalitis ,Anti-NMDAR antibodies ,Ovarian teratoma ,Follow-up ,Neurology. Diseases of the nervous system ,RC346-429 - Abstract
Abstract Background Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is an autoimmune disorder with a variety of clinical manifestations. It has been established that anti-NMDAR encephalitis may be related to ovarian teratoma in female patients. However, a considerable number of patients have no obvious evidence of ovarian teratoma during the onset of the disease. Case A 25-year-old previously-healthy female experienced a series of acute symptoms within two days, including confusion, disorientation, short-term memory loss, auditory hallucinations, abnormal behavior, refractory status epilepticus, etc. Her brain MRI and abdominal imaging showed no definite abnormality while her electroencephalogram exhibited the presence of low to moderate amplitude sharp, spike, and multi-spike waves. Serum and cerebrospinal fluid tests yielded positive results for anti-NMDAR antibodies. However, an ultrasound scan failed to identify an ovarian teratoma. Consequently, the diagnosis of anti-NMDAR encephalitis without teratoma was made after 4 days onset. After the plasma exchange and immunoglobulin therapy, her neurological symptoms improved and obtained a clinical cure. In the next eight months of follow-up, the patient accidentally touched a lump in the lower abdomen without any symptoms, and abdominal ultrasound and CT scan revealed a left ovarian tumor. Then she underwent left ovarian teratoma resection surgery and histopathology showed a mature cystic teratoma with neural components. The patient continued to receive five years of follow-up, and her condition remained stable without any recurrence, except that there had been a low titer of anti-NMDAR antibody in her serum. Conclusion Our case demonstrated the importance of long-term follow-up for female patients with anti-NMDAR encephalitis, since anti-NMDAR encephalitis-associated ovarian teratomas may develop in a delayed manner, even without any symptoms.
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- 2024
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3. Anti‐NMDA receptor autoimmune encephalitis associated with ovarian teratoma: A case series and literature review.
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Nha, Pham Ba, Tu, Nguyen Phuong, Ha, Nguyen Viet, Hien, Duong Thi Thu, Phuong, Nguyen Thi Thu, Son, Nguyen Anh, and Hoang, Nguyen Tien
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EYE movement disorders , *ANTI-NMDA receptor encephalitis , *MENTAL illness , *MUSCLE tone , *NEURONS , *RECEPTOR antibodies - Abstract
Autoimmune encephalitis is a group of disorders characterized by symptoms of dysfunction of the limbic and extra‐limbic systems that occur in association with antibodies against intracellular antigens, synapses, or proteins located on the surface of nerve cells. Anti‐NMDA (N‐methyl‐D‐aspartate) receptor encephalitis was first described in 2007 and has become one of the most commonly recognized autoimmune encephalitides. The disease is predominantly female (81%) and affects young patients (37% <18 years old, 95% <45 years old), with up to 58% of women over 18 years old having ovarian teratoma. Clinical symptoms of anti‐NMDA receptor encephalitis include psychiatric disorders (anxiety, agitation, bizarre behavior, hallucinations, delusions, and memory impairment); seizures and epileptic states; and other neurologic symptoms (muscle tone abnormalities, eye movement disorders, and central ventilatory disorders). Diagnosis of this condition can be difficult due to the non‐specific nature of the symptoms, often leading to delays in appropriate treatment. Early diagnosis and timely treatment of anti‐NMDA receptor encephalitis, especially in young women with ovarian teratoma, has significantly improved the chances of full recovery and improved reproductive health outcomes for patients. [ABSTRACT FROM AUTHOR]
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- 2024
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4. Anti-NMDAR encephalitis with delayed ovarian teratoma in a young woman: a case report with 5 years of follow-up.
- Author
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Xue, Hailong, Hu, Junhao, Chen, Yingge, Huang, Wenbin, Liu, Haoling, Xu, Hongli, and Shi, Ming
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SYMPTOMS ,AUDITORY hallucinations ,OVARIAN tumors ,ANTI-NMDA receptor encephalitis ,TERATOMA ,SEROTHERAPY - Abstract
Background: Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is an autoimmune disorder with a variety of clinical manifestations. It has been established that anti-NMDAR encephalitis may be related to ovarian teratoma in female patients. However, a considerable number of patients have no obvious evidence of ovarian teratoma during the onset of the disease. Case: A 25-year-old previously-healthy female experienced a series of acute symptoms within two days, including confusion, disorientation, short-term memory loss, auditory hallucinations, abnormal behavior, refractory status epilepticus, etc. Her brain MRI and abdominal imaging showed no definite abnormality while her electroencephalogram exhibited the presence of low to moderate amplitude sharp, spike, and multi-spike waves. Serum and cerebrospinal fluid tests yielded positive results for anti-NMDAR antibodies. However, an ultrasound scan failed to identify an ovarian teratoma. Consequently, the diagnosis of anti-NMDAR encephalitis without teratoma was made after 4 days onset. After the plasma exchange and immunoglobulin therapy, her neurological symptoms improved and obtained a clinical cure. In the next eight months of follow-up, the patient accidentally touched a lump in the lower abdomen without any symptoms, and abdominal ultrasound and CT scan revealed a left ovarian tumor. Then she underwent left ovarian teratoma resection surgery and histopathology showed a mature cystic teratoma with neural components. The patient continued to receive five years of follow-up, and her condition remained stable without any recurrence, except that there had been a low titer of anti-NMDAR antibody in her serum. Conclusion: Our case demonstrated the importance of long-term follow-up for female patients with anti-NMDAR encephalitis, since anti-NMDAR encephalitis-associated ovarian teratomas may develop in a delayed manner, even without any symptoms. [ABSTRACT FROM AUTHOR]
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- 2024
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5. Anti-metabotropic glutamate receptor 5 coexistent anti-N-methyl-D-aspartate receptor encephalitis: a case report and literature review
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Yixin Gu, Tingting Xuan, Pankui Li, Jing Zhou, and Zhenhai Wang
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autoimmune encephalitis ,metabotropic glutamate receptor 5 ,antibody overlap ,ovarian teratoma ,case report ,Immunologic diseases. Allergy ,RC581-607 - Abstract
Metabotropic glutamate receptor 5 (mGluR5) antibody encephalitis is an infrequent clinical disorder, initially reported in 2011 among two patients presenting with limbic encephalitis and Hodgkin’s lymphoma. Mental and behavioral abnormalities are prevalent manifestations, accompanied by cognitive impairment, movement disorders, seizures, and other associated symptoms. In this report, we present the case of a young female patient who presented with abnormal mental behavior, seizures, and disturbances of consciousness. A cell-based assay (CBA) showed positive IgG metabotropic glutamate receptor 5 in both her serum and cerebrospinal fluid (CSF), as well as positive IgG N-methyl-D-aspartate receptor (NMDAR) in both her serum and CSF. She was diagnosed with mGluR5 overlapping NMDAR antibody encephalitis and received high-dose intravenous methylprednisolone pulse therapy and immunoglobulin therapy. Tumor screening suggested the presence of bilateral ovarian teratoma. However, unfortunately the prognosis was extremely poor. Clinical results suggested that patients with mGluR5-Abs mostly have good prognoses, excepting our case.
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- 2025
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6. Anti-NMDA Encephalitis Associated with a Mature Ovarian Teratoma: A Compelling Case Report
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Antonio Medina Luna, Octavio César Augusto Caamal Torres, Ramón Adrián Magaña Dávalos, and Carlos Esteban Vidal Valderrama
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Benign tumors ,ovarian teratoma ,anti-NMDA receptor encephalitis ,Autoimmune Diseases ,Medicine (General) ,R5-920 ,Public aspects of medicine ,RA1-1270 - Abstract
BACKGROUND: Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis is a paraneoplastic and autoimmune disorder characterized by prominent neuropsychiatric manifestations. About 80% of reported cases occur in females, and approximately half of these patients have an ovarian teratoma. The NMDA receptor, located in the hippocampus and forebrain, plays a critical role in memory, cognition, and learning. The pathogenesis of anti-NMDAR encephalitis is driven by an autoimmune mechanism in which the body produces autoantibodies (anti-NMDAR) that internalize and alter the NR1 subunit of the NMDA receptor, leading to decreased synaptic function and neuropsychiatric symptoms. Anti-NMDAR encephalitis accounts for 54% to 80% of autoimmune encephalitis cases. First reported in 2007, two young female patients (ages 15 and 19) with ovarian teratomas exhibited neuropsychiatric symptoms such as psychosis, seizures, autonomic instability, memory loss, dyskinesias, and speech disorders, all of which improved significantly after teratoma removal (Zhang et al., 2020; Lui et al., 2022). The average age of onset is 21 years, but cases have been reported in patients ranging from 8 months to 85 years. Early surgical excision of the teratoma and immunosuppression can lead to better outcomes and reduced relapse rates. Anti-NMDAR encephalitis is the most common cause of encephalitis in patients under 30 years, often misdiagnosed due to its varied clinical presentations. THE CASE: We present the case of a 56-year-old female with no medical history who was admitted to the emergency room on February 15, 2023, with dysphagia, anorexia, drowsiness, nausea, muscle weakness, altered mental state, confusion, and unresponsiveness. Initially diagnosed with anxiety and major depressive disorder with psychotic symptoms at Methodist Hospital in Houston, she was treated with multiple medications but showed no significant improvement. Her condition deteriorated, with worsening cognitive, psychiatric, and motor function. Upon transfer to Hospital Ginequito in Monterrey, Mexico, on March 26, 2023, further evaluation revealed cortical atrophy on MRI, macrocytic anemia, electrolyte imbalances, and primary hypothyroidism. Despite treatment for suspected HSV-associated limbic encephalitis, her condition continued to decline, leading to generalized seizures. Anti-NMDA receptor encephalitis was diagnosed based on positive anti-NMDAR antibodies in serum and cerebrospinal fluid. An abdominopelvic CT scan identified a mature ovarian teratoma in the left ovary, measuring approximately 891 cc. Given the strong association between ovarian teratomas and anti-NMDA receptor encephalitis, she underwent a left salpingo-oophorectomy. Pathology confirmed a teratoma with a mural nodule containing osseous, neural, glial, and gastrointestinal tissue. Following immunotherapy with IV methylprednisolone and immunoglobulins, as well as the surgical removal of the teratoma, the patient showed significant clinical improvement. She regained mobility and cognitive function and was stable at the one-month follow-up. CONCLUSION: In the present case, a diagnosis of anti-NMDA receptor encephalitis was reported, after the presence of a mature ovarian teratoma containing neural tissue. This finding is uncommon in this pathology and has been proposed as the triggering factor for the reported encephalitis. Anti-NMDA receptor encephalitis involves various stages of the disease, which can potentially lead to death. Due to the broad spectrum of symptoms, it can mimic other psychiatric disorders, underscoring the importance of serological examination.
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- 2025
7. A diagnostic challenge – autoimmune encephalitis as paraneoplastic syndrome of ovarian teratoma. Current state of knowledge
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Burdan Oliwia, Kurec Grzegorz, and Szklener Katarzyna
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limbic encephalitis ,ovarian teratoma ,anti-nmda-receptor ,neuronal antigen ,Medicine - Abstract
Autoimmune encephalitis (AE) is one of the paraneoplastic syndromes of ovarian teratoma. Insufficient knowledge about the evolution of the disease, as well as its manifestation in the form of non-specific clinical symptoms (such as significant deterioration of memory and cognitive functions of patients), is a common cause of a prolonged diagnostic process and delay in the introduction of targeted treatment. The aim of the study was to summarize the data available in the literature, as well as recent reports, to facilitate and accelerate the diagnosis of the syndrome and ensure better care for patients.
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- 2024
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8. Unexpected acute appendicitis found at laparoscopic surgery for a right ovarian teratoma: A case report
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Rie Okuya, Hiroshi Ishikawa, Nozomi Sakai, Eri Katayama, Kaori Kuroda, and Kaori Koga
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Adnexal torsion ,Ovarian teratoma ,Acute abdomen ,Appendicitis ,Young adult ,Diagnostic imaging ,Surgery ,RD1-811 ,Gynecology and obstetrics ,RG1-991 - Abstract
Acute appendicitis and adnexal torsion associated with ovarian tumors are possible causes of acute abdomen in women, yet differentiation remains challenging. Once adnexal torsion is suspected in young women, gynecologists should perform surgery to release the torsion as promptly as possible to preserve future fertility. Herein, we report a case of acute appendicitis that was unexpectedly discovered during laparoscopic surgery initially performed for suspected torsion of a right ovarian teratoma. A 20-year-old nulligravid woman with a history of left ovarian teratoma resection and ulcerative colitis presented with left lower abdominal pain. Non-contrast-enhanced computed tomography showed no findings suggestive of exacerbation of ulcerative colitis, such as bowel wall thickening or worsening ascites, while a mass suspected to be an ovarian teratoma was identified. Gynecologists and an emergency physician specializing in gastroenterology who attended the patient suspected an acute abdomen caused by adnexal torsion or tumor leakage associated with a right ovarian teratoma 5 cm across. However, laparoscopy revealed that the right ovarian teratoma was neither twisted nor ruptured. Instead, the appendix was swollen with yellow turbid ascites, compatible with acute appendicitis. Therefore, laparoscopic excision of the right ovarian teratoma and appendix was performed, and the patient's pain resolved postoperatively. The assumption that the pain was caused by torsion of the right ovarian teratoma was the primary reason for failing to diagnose acute appendicitis. This underscores the importance of evaluating the appendix during gynecologic laparoscopic surgery performed for suspected ovarian torsion.
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- 2025
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9. Genetic Profiling of Sebaceous Carcinoma Arising from an Ovarian Mature Teratoma: A Case Report.
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Zaitsu, Sumika, Aoyagi, Yoko, Nishida, Haruto, Nakamura, Kohei, Yano, Mitsutake, and Kobayashi, Eiji
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SEBACEOUS gland diseases , *TERATOMA , *DNA mismatch repair , *SINGLE nucleotide polymorphisms , *ABDOMINAL tumors , *NONSENSE mutation , *FERTILITY preservation , *INDUCED ovulation - Abstract
Ovarian mature teratomas (OMTs) originate from post-meiotic germ cells. Malignant transformation occurs in approximately 1–2% of OMTs; however, sebaceous carcinoma arising from OMTs is rare. This is the first report of a detailed genomic analysis of sebaceous carcinoma arising from an OMT. A 36-year-old woman underwent evaluation for abdominal tumors and subsequent hysterectomy and salpingo-oophorectomy. Pathologically, a diagnosis of stage IA sebaceous carcinoma arising from an OMT was established. Eight months post-surgery, the patient was alive without recurrence. Immunohistochemically, the tumor was negative for mismatch repair proteins. A nonsense mutation in TP53 (p.R306*) and a deletion in PIK3R1 were identified. Single nucleotide polymorphisms across all chromosomes displayed a high degree of homozygosity, suggestive of uniparental disomy. Herein, the OMT resulting from the endoreduplication of oocytes underwent a malignant transformation to sebaceous carcinoma via TP53 as an early event and PIK3R1 as a late event. [ABSTRACT FROM AUTHOR]
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- 2024
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10. Association of ovarian teratoma with anti-N-methyl-D-aspartate receptor encephalitis: a case report and narrative review
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Joseph, Konrad, van der Hock, Sarah, Seth, Ishith, Hapangama, Nipuni, Gibson, Lara, Cuomo, Roberto, Rozen, Warren M., and Dhupar, Nita
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- 2024
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11. MR diagnosis of SCC arising within ovarian cystic teratomas: analysis of mural nodule characteristics.
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Fukuzawa, Takuya, Ohya, Ayumi, Tanaka, Mika, Shimizu, Marika, Kobayashi, Kentaro, Matsushita, Tomohito, Watanabe, Tomofumi, Kobara, Hisanori, and Fujinaga, Yasunari
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MURAL art , *TERATOMA , *SQUAMOUS cell carcinoma , *MAGNETIC resonance , *PALMS - Abstract
Purpose: This study aims to evaluate and identify magnetic resonance (MR) findings of mural nodules to detect squamous cell carcinoma arising from ovarian mature cystic teratoma (SCC-MCT). Methods: This retrospective study examined 135 patients (SCC-MCTs, n = 12; and benign MCTs, n = 123) with confirmed diagnoses across five different institutions between January 2010 and June 2022. Preoperative MR images for each patient were independently assessed by two experienced radiologists and analyzed following previously reported findings (PRFs): age, tumor size, presence of mural nodules, size of mural nodule, and the angle between mural nodule and cyst wall (acute or obtuse). Furthermore, this study evaluated four mural nodule features—diffusion restriction, fat intensity, Palm tree appearance, and calcification—and the presence of transmural extension. Results: There were significant differences between the SCC-MCT and benign MCT groups in terms of all PRFs and all mural nodule findings (p < 0.01). Among the PRFs, "tumor size" demonstrated the highest diagnostic performance, with a sensitivity of 83.3% and a specificity of 88.6%. A combination of the aforementioned four mural nodule findings showed a sensitivity and specificity of 83.3% and 97.6%, respectively, for the diagnosis of SCC-MCT. Regarding diagnosis based on a combination of four mural nodule findings, the specificity was significantly higher than the diagnosis based on tumor size (p = 0.021). Based on these mural nodule findings, three SCC-MCT patients without transmural invasion could be diagnosed. Conclusion: Mural nodule MR findings had a higher diagnostic performance than PRFs for SCC-MCT and can potentially allow early detection of SCC-MCTs. [ABSTRACT FROM AUTHOR]
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- 2024
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12. Mature cystic ovarian teratoma with squamous cell carcinoma transformation: a case report and literature review.
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Abdoli Shadbad, Mahdi, Derogar, Roghaiyeh, Shekarchi, Ali Akbar, Akbari, Farideh, and Jafari Shobeiri, Mehri
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CELL transformation , *SQUAMOUS cell carcinoma , *TERATOMA , *TUMOR proteins - Abstract
Cancerous transformation in mature cystic ovarian teratoma is rare. Herein, we reported a case of squamous cell carcinoma transformation in mature cystic ovarian teratoma and performed an in-depth literature review to highlight the risk factors, prognosis, and suggested treatment for these patients. We report a 66-years old postmenopausal woman diagnosed with a 120×90 (mm) mass at the left adnexa compatible with mature cystic ovarian teratoma. Following resection, the histopathological investigations showed malignant transformation in her mature cystic ovarian teratoma, and the immunohistochemistry for cytokeratin (CK) 5/6 and tumor protein 63 (P63) indicated squamous cell carcinoma transformation. She has been observed for her stage IA tumor and has been cancer-free for 6 months. Although malignant transformation in mature cystic ovarian teratoma is rare, it should be suspected if certain risk factors, e.g., elderly and high tumor size, exist. Stage IA patients' prognosis is favorable, and chemotherapy is not recommended. [ABSTRACT FROM AUTHOR]
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- 2024
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13. Laparoscopic Ovarian-Sparing Surgery for the Management of Benign Ovarian Lesions in Pediatric Patients: A Retrospective Analysis.
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Piotrowska-Gall, Aneta, Strzelecka, Agnieszka, Wróbel, Joanna, Salamon, Aleksandra, Urbaniak-Wąsik, Sławka, Cierniak, Piotr, and Wolak, Przemysław
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Laparoscopic ovarian-sparing surgery (OSS) is safe and effective management approach for benign ovarian lesions in pediatric patients. This study evaluates the outcomes of females younger than 18 years who underwent the OSS procedure between December 2013 and November 2022 at a single institution. We conducted a retrospective analysis of records from 82 females who underwent OSS for ovarian lesions. OSS was performed based on diagnostic imaging that suggested the benign nature of the lesion. Of the 82 patients studied, 78 had unilateral lesions and 4 had bilateral synchronous lesions. The mean age was 14 years. The majority (62 cases) of the surgeries were laparoscopic, with 20 requiring conversion to open surgery due to factors such as indistinguishable edges and large size of the lesion. We identified 8 cases of ovarian torsion. The surgical specimens revealed that 46 were ovarian teratomas, 2 were granulosa cell tumors, 15 were cystadenomas, and 23 were functional cysts. There were no intraoperative complications. Two recurrences were observed in patients who were initially treated for bilateral ovarian teratomas. One patient developed a pelvic abscess. Additionally, three patients had metachronous ovarian tumors during the follow-up period. In patients followed with ultrasound imaging, the viable ovary was visualized in 83.6% of the cases (61 out of 73). Our findings demonstrate the effectiveness of laparoscopic OSS in preserving ovarian function and providing clinical benefits in patients with benign ovarian lesions. We recommend regular follow-up with ultrasound to exclude metachronous lesions or recurrence. III. • Pediatric-Specific Insights: This research stands out as one of the select studies focusing on the outcomes of ovarian-sparing surgery (OSS) in the pediatric demographic. It illuminates the distinct challenges and factors involved in addressing benign ovarian lesions in this age group. • Comprehensive Analysis: By combining demographic data, preoperative diagnostics, surgical details, and postoperative findings, the paper offers a holistic view of the OSS procedure's effectiveness and safety, making it a valuable resource for surgeons and medical professionals in related fields. • Highlighting the Role of Preoperative diagnostics: The research underscores the critical role of preoperative diagnostics, in diagnosing and managing ovarian lesions, emphasizing the need for more consistent imaging protocols in pediatric oncology. • Implications for Long-Term Monitoring: The paper's insights into recurrence and metachronous tumors emphasize the importance of diligent long-term follow-up, paving the way for more robust postoperative care guidelines for pediatric patients undergoing OSS. [ABSTRACT FROM AUTHOR]
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- 2024
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14. Editorial: Fertility preservation
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Berna Dilbaz
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fertility preservation ,premature ovarian failure ,chemotherapy ,ovarian teratoma ,sexual education ,sickle cell anemia ,Gynecology and obstetrics ,RG1-991 ,Women. Feminism ,HQ1101-2030.7 - Published
- 2024
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15. Anti-NMDA encephalitis secondary to an ovarian teratoma presenting as altered mental status in a 32-year-old woman: A case report
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Grace Jarmoc, Candace Smith, Emma Finnerty, Nyia L. Noel, and Ariel Marks
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Ovarian teratoma ,Encephalitis ,NMDA receptor encephalitis ,Case report ,Surgery ,RD1-811 ,Gynecology and obstetrics ,RG1-991 - Abstract
NMDA-R encephalitis is an autoimmune encephalitis that is known to be associated with ovarian teratomas. Eighty to 100 % of patients initially present with neuropsychiatric symptoms. Early recognition and intervention are critical to management and prognosis. This case demonstrates non-specific presenting symptoms of NMDA-R encephalitis.A 32-year-old woman presented to the emergency room with headache, nausea, vomiting, and photophobia. She was discharged with probable aseptic meningitis. Eight days later, she represented with delusional thought content, perseverative speech, and bizarre behavior. Cerebrospinal fluid studies showed elevated protein and mild pleocytosis. A computed tomography scan with contrast showed a 35-mm complex cystic lesion in the right adnexa, which was resected. Confirmatory pathology showed a mature cystic teratoma. Paraneoplastic panel later resulted positive for NMDA-R encephalitis. The patient was treated with methylprednisolone, IVIG, plasmapheresis, and rituximab. The clinical course was complicated by a hypersensitivity reaction to rituximab, non-convulsive status epilepticus requiring intubation, dysphagia requiring a PEG placement, a rectal ulcer causing acute blood loss anemia requiring multiple blood transfusions, bilateral hearing loss, and a left lung pneumothorax. The patient's mood, cognition, and motor function were favorably improving 19 months after diagnosis.This case illustrates presenting signs of NMDA-R encephalitis in a young woman as headache and altered mental status followed by psychosis and epilepsy. Treatment should involve a multidisciplinary team and be individualized and escalated in patients with worsening clinical status refractory to first-line therapy. Further research is warranted to understand the optimal treatment strategy for this disease.
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- 2024
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16. Ovarian Tumors
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Sykes, Alicia G., Fallat, Mary E., Ignacio, Romeo C., Jr., Puri, Prem, editor, and Höllwarth, Michael E., editor
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- 2023
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17. Peritoneal gliomatosis in ovarian teratoma: a brief review of the literature and a case report
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A. Yu. Shamanova, V. V. Saevets, S. V. Khohlova, G. V. Sychugov, K. S. Aristarkhova, L. V. Yarina, and Yu. V. Klyuchnik
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peritoneal gliomatosis ,ovarian cancer ,ovarian teratoma ,diagnosis ,prognosis ,Gynecology and obstetrics ,RG1-991 - Abstract
Malignant neoplasms of the pelvic organs and abdominal cavity are often associated with peritoneal gliomatosis (PG). Detection of PG and its differentiation from carcinomatosis and other changes in the tissue using ultrasound, magnetic resonance imaging, computed tomography is extremely limited. Questions of the pathogenesis of PG, its influence on the course of the main tumor process, as well as the relationship with indicators of overall and relapse-free survival remain debatable. We believe that the description of the PG encountered in practice is extremely relevant in the aspect of considering the possibility of the presence of such a pathology in the tumor process and the inclusion of PG in the differential diagnostic series in the diagnosis of changes in the omentum and peritoneum of the small pelvis and abdominal cavity using various methods (ultrasound, magnetic resonance imaging, intraoperative urgent histological examination).
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- 2023
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18. Surgical procedures and plasma exchange for ovarian teratoma-associated anti-N-methyl D-aspartate receptor encephalitis: a case report and review of literature
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Yue Hu, Jianyuan Zhang, Peihai Zhang, Baozhi Sun, Hongli Zou, and Lei Cheng
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ovarian teratoma ,anti-N-methyl D-aspartate receptor encephalitis ,plasma exchange ,oophorectomy ,adnexectomy ,ovarian cystectomy ,Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,RC254-282 - Abstract
We reported a case of ovarian teratoma-associated Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis with recurrent epileptic seizures and disturbance of consciousness. Although surgical excision of the tumor remains the established standard of care, unlike other reported cases, the patient exhibited limited response to early oophorocystectomy, as well as IVIG and steroid therapy; however, a favorable response was observed with Plasma exchange (PE) initiated on postoperative day 12. Literature review revealed no definite recommended surgical extent for ovarian teratomas, and outstanding improvement in patients with anti-NMDAR encephalitis following PE. Our case raises the question regarding the optimal surgical extent for tumor resection, necessitating careful consideration when deciding between oophorectomy and adnexectomy as the preferred surgical procedure for anti-NMDAR encephalitis in female teens and adults. Furthermore, for refractory patients who fail to respond following tumor resection, PE can be performed early instead of immediately initiating second-line therapy.
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- 2023
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19. Timely laparoscopic intervention for ovarian tumor-related autoimmune encephalitis: A challenging pathology at Tu Du Hospital in Vietnam and literature review
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Thanh Hai Pham, Phuc Nhon Nguyen, and Quang Nhat Ho
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anti-n-methyl-d-aspartate receptor encephalitis ,autoimmune disease ,laparoscopy ,mortality ,ovarian teratoma ,Gynecology and obstetrics ,RG1-991 - Abstract
A previously fit and healthy 39-year-old woman was admitted to our tertiary referral hospital with coexisting autoimmune encephalopathy and ovarian tumor. Due to the presence of anti-N-methyl-d-aspartate receptor (anti-NMDAR) in the cerebrospinal fluid, a diagnosis of anti-NMDAR encephalitis was first suggested after ruling out other etiologies. Thus, a laparoscopy was promptly performed to remove the ovarian tumor. The histological endpoint revealed an ovarian teratoma. Consequently, the patient recovered completely in good health condition after 2 months in a coma status. Herein, we report an uncommon case of anti-NMDAR encephalitis associated with ovarian teratoma at our hospital, thus raising awareness of physicians.
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- 2023
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20. Anti-N-methyl-D-aspartate receptor encephalitis: A paraneoplastic syndrome in an Indian adolescent girl
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Deepti Malhotra, Sudhir Sane, Shivaji Mane, and Omkar Hajirnis
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anti-n-methyl-d-aspartate receptor encephalitis ,autoimmune encephalitis ,ovarian teratoma ,Pediatrics ,RJ1-570 - Abstract
Background: Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis is an auto-immune encephalitis with prominent neuropsychiatric manifestations that may be paraneoplastic. Clinical Description: A teenage girl presented with an acute illness of 4 days with symptoms of generalized weakness of all four limbs, behavioral abnormalities, and a generalized convulsion. On examination, the child was hemodynamically stable and disoriented to time, place, or person. There was the loss of recent memory. The remaining neurological and systemic examination was normal. The differential diagnoses considered were toxic or metabolic encephalopathy, neurological Wilson's disease, acute intermittent porphyria, autoimmune encephalitis, and neuropsychiatric systemic lupus erythematosus. Investigations were planned for the causes that could not be excluded by history, examination, and baseline investigations. Salient reports were normal brain magnetic resonance imaging (MRI), nonspecific electroencephalogram abnormalities, and absence of pleocytosis and biochemical abnormalities but positive anti-NMDAR antibodies in the cerebrospinal fluid. A right adnexal cystic solid mass was identified in the abdominal ultrasound with the radiological appearance of an ovarian teratoma or germ cell tumor on MRI. Alpha-fetoprotein levels were raised. Management: The patient underwent right salpingo-oophorectomy. The histopathological diagnosis was an immature ovarian teratoma. The patient received first-line and then second-line immunotherapy (when there was no response), as well as chemotherapy. Signs of improvement appear after 6 weeks, with complete recovery within 6 months. Conclusion: Pediatric ovarian teratoma-associated anti-NMDAR encephalitis is rare, but neuropsychiatric symptoms should prompt the clinician to think of this diagnosis in girls. Early treatment is associated with a good prognosis.
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- 2023
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21. Ovarian teratoma-associated anti-N-methyl-D-aspartate receptor encephalitis: a clinical analysis of 5 cases.
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Lidan He, Xia Zhang, and Jianbo Wu
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TERATOMA ,OVARIAN tumors ,METHYL aspartate receptors ,ENCEPHALITIS ,MAGNETIC resonance imaging of the brain - Abstract
Objectives: To analyse the clinical features, diagnosis, treatment, and prognosis of anti-N-methyl-D-aspartic acid receptor (NMDAR) encephalitis associated with ovarian mature teratomas. Material and methods: Retrospectively analysed the clinical-laboratory data of five patients with anti-NMDAR encephalitis combined with ovarian teratoma at a single centre between March 2016 and June 2019. Results: The mean age of the patients was 22.40 ± 2.89 years (range, 19-26 years). Five patients had premonitory fever symptoms, clinical manifestations of mental disorder or convulsions for starting, with varying degrees of involuntary movement. Brain MRI and electroencephalography lacked specificity, and cerebrospinal fluid resistance NMDAR antibody detection was the key to diagnosis. All patients experienced good outcomes in response to immunotherapy combined with ovarian tumour resection, with a median follow-up time of 36 months (range, 16-55 months). The MRS value of five patients decreased significantly half a year after surgery, and no encephalitis or ovarian tumour relapses were reported. Conclusions: Anti-NMDA encephalitis caused by ovarian teratoma is mostly a non-specific clinical manifestation of neurological and mental abnormalities, which can be easily misdiagnosed and delayed, and doctors should fully recognise the disease, early diagnosis, and timely surgical intervention to improve the prognosis of patients. [ABSTRACT FROM AUTHOR]
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- 2023
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22. A rare case of struma ovarii: Typical CT imaging
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Xinyu Lei, Yang Zhou, Li Kong, and Zixuan Kong
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Struma ovarii ,CT imaging ,Ovarian teratoma ,Surgery ,RD1-811 - Published
- 2024
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23. Successful pregnancy with primary infertility as a result of simultaneous bariatric intervention and laparoscopic oophorectomy in women with large cystic ovarian teratoma and morbid obesity
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V. S. Samoylov, A. V. Stepanenko, and V. V. Popov
- Subjects
primary infertility ,ovarian teratoma ,laparoscopic oophorectomy ,laparoscopic mini gastric bypass ,bariatric surgery ,case report ,Surgery ,RD1-811 - Abstract
The article presents a clinical observation of a patient with primary infertility on the background of morbid obesity (BMI – 64.6 kg/sq.m.) and large cystic teratoma of the right ovary, who underwent bariatric surgery – laparoscopic minigastric bypass and simultaneous laparoscopic right-sided oophorectomy. Along with the true gynecological causes of female infertility, which include, among others, benign formations of the uterine appendages, obesity is a proven significant factor in its development. The use of various infertility treatment options in obese women is ineffective, and pregnancy outcomes are often disappointing. The only proven effective treatment for morbid obesity is bariatric surgery. The implementation of bariatric intervention, and, as a result, a significant decrease in body weight, directly positively affects fertility rates. However, the polyetiological nature of primary infertility in women dictates the need for an integrated approach to treatment. A feature of the presented case is the simultaneous elimination of both etiological factors of infertility – gynecological and endocrine after one surgical intervention. The goal was achieved – after 10 months, the patient was diagnosed with a progressive uterine pregnancy for a period of 11 weeks, with a decrease in body weight by 49.9% of overweight. The course of pregnancy was uneventful. Childbirth independent, newborn full-term boy without deviations. After the birth of the child, the patient continued to reduce body weight and, 29 months after surgery, she achieved a loss of 67% of her excess weight. The presented case clearly demonstrates the advantages of simultaneous elimination of the most likely causes of primary infertility. However, the implementation of such interventions by laparoscopic access requires extensive surgical experience, technical equipment and comprehensive readiness of the medical institution.
- Published
- 2022
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24. Ileo-dermoid fistula: A rare presentation of ovarian dermoid
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Neha Agrawal, Meenakshi Gothwal, Garima Yadav, Pratibha Singh, Vaibhav Varshney, Taruna Yadav, and Sudeep Khera
- Subjects
ileo-dermoid fistula ,intestinal obstruction ,malignant transformation ,ovarian teratoma ,Gynecology and obstetrics ,RG1-991 ,Geriatrics ,RC952-954.6 - Abstract
Mature cystic teratoma is a benign ovarian tumor that usually presents in reproductive-age females. This tumor usually presents with pain abdomen, bloating, and a lump. Hereby, we describe a case of an ovarian dermoid presented with features of intestinal obstruction secondary to ileo-dermoid fistula formation. A 55-year-old postmenopausal female presented with lower abdominal pain, nausea, vomiting, and the feeling of a lump in the abdomen. On evaluation and imaging, it was diagnosed as a large ovarian dermoid (with malignant transformation) with multiple fistulous communications with ileal loops. The patient was managed by laparotomy, total abdominal hysterectomy with bilateral salpingo-oophorectomy, bowel resection, and anastomosis. The patient was discharged in good condition. The rupture of malignant ovarian dermoid followed by enterodermoid fistula formation and intestinal obstruction is rare. Complete cytoreduction and bowel repair should be considered for optimal results.
- Published
- 2023
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25. Malignant struma ovarii: Case report of an unusual ovarian tumor with CT imaging
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Atrikha Rahma, MD, Lies Mardiyana, MD, and Dyah Fauziah, MD
- Subjects
CT Imaging ,Malignant Struma Ovarii ,Ovarian Teratoma ,Medical physics. Medical radiology. Nuclear medicine ,R895-920 - Abstract
Struma ovarii is categorised as a monodermal type of mature teratoma and consists primarily of thyroid tissue. It is an uncommon ovarian tumor, with non–specific clinical, and imaging findings. The majority of struma ovarii are benign and are typically associated with mature cystic teratomas. A small proportion of struma ovarii may undergo malignant transformation, with papillary carcinoma the most common type of malignancy. The criteria used to identify a malignant change in struma ovarii are identical to those used to evaluate the thyroid gland. Nevertheless, due to the rarity of struma ovarii, imaging diagnostic criteria, and subsequent management are not clearly defined. This case report describes a 41-year-old female patient who presented with rapid abdominal enlargement over a period of 1 month, accompanied by elevation of the tumor marker CA-125. Based on these clinically findings, ovarian cancer was suspected. The patient underwent a total abdominal hysterectomy with bilateral salpingo-oophorectomy. Histopathology results revealed a malignant struma ovarii.
- Published
- 2022
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26. Imaging in a Patient with Recent Cesarean Section and Acute Right Lower Quadrant Pain Due to Torsion OF Ovarian Teratoma – Diagnostic Challenges
- Author
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Arabadzhieva E., Krupev M., Yonkov A., Bulanov D., and Bonev S.
- Subjects
torsion ,ovarian teratoma ,computed tomography ,acute right lower quadrant pain ,Medicine - Abstract
Introduction: Ovarian teratomas are common pathology, manifested by various clinical and imaging findings, as well as different complications. The differential diagnosis can be challenging in cases with acute right lower quadrant (ARLQ) pain.
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- 2022
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27. Cystic ovarian teratoma as a novel tumor and growth hormone deficiency as a new condition presenting in Multiple Endocrine Neoplasia type 2B: Case reports and review of the literature
- Author
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Renata Pomahacova, Petra Paterova, Eva Nykodymova, Eliska Vaclavikova, Pavla Sykorova, Katerina Personova, Ramir Katra, Ivan Subrt, and Josef Sykora
- Subjects
multiple endocrine neoplasia type 2b ,medullary thyroid carcinoma ,growth hormone deficiency ,ovarian teratoma ,Medicine - Abstract
Background. We describe early and typical nonendocrine symptoms of Multiple Endocrine Neoplasia type 2B (MEN2B) presented in our patients with de novo M918T mutation in the RET proto-oncogene in early childhood, however, the diagnosis of MEN2B and medullary thyroid carcinoma (MTC) was confirmed late, in the second decade of life. In this paper, we emphasize the possibility of growth retardation, growth hormone (GH) deficiency and ovarian teratoma as a new symptom of MEN2B. Case Reports. Advanced MTC with palpable mass on the neck and nonendocrine symptoms such as marfanoid habitus, thickened lips, mucosal neuromas led to the diagnosis in case 1 at the age of 13 years and GH deficiency and nonendocrine symptoms in case 2 at the age of 11 years. The earliest feature of MEN2B was alacrima and constipation. Patient 1 was operated on for a slipped femoral capital epiphysis and for a cystic ovarian teratoma. Conclusions. Improved awareness of nonendocrine signs of MEN2B could lead to earlier diagnosis, when surgical cure of MTC is possible. Alacrima is the first sign of MEN2B. We confirmed the possibility of growth retardation and GH deficiency in MEN2B, which had been previously rarely described. We suggest that patients with MEN2B may develop cystic ovarian teratoma, to the best of our knowledge, which has never been described so far in the literature. The results of this study could be used to guide further diagnosing of MENB2 at the early stage for better clinical outcome. We emphasize that MEN2B carries a risk for development of cystic ovarian teratoma as a novel tumor in this disease.
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- 2022
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28. Genetic diagnosis of pseudomyxoma peritonei originating from mucinous borderline tumor inside an ovarian teratoma
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Ayumi Taguchi, Hirofumi Rokutan, Katsutoshi Oda, Michihiro Tanikawa, Saki Tanimoto, Kenbun Sone, Mayuyo Mori, Tetsushi Tsuruga, Shinji Kohsaka, Kenji Tatsuno, Aya Shinozaki-Ushiku, Kiyoshi Miyagawa, Hiroyuki Mano, Hiroyuki Aburatani, Tetsuo Ushiku, and Yutaka Osuga
- Subjects
Pseudomyxoma peritonei ,Ovarian teratoma ,Mucinous borderline tumor ,Comprehensive genomic profiling ,Uniparental disomy ,Case report ,Internal medicine ,RC31-1245 ,Genetics ,QH426-470 - Abstract
Abstract Background Pseudomyxoma peritonei is a rare disease condition mainly caused by primary mucinous tumors from the appendix and rarely from the ovary, such as when mucinous ovarian tumors arise from within a teratoma. Molecular analyses of pseudomyxoma from the appendix showed that KRAS and GNAS pathogenic variants are common genetic features of pseudomyxoma peritonei. However, the origin of the tumors is difficult to be identified via genetic variants alone. This study presents a case of pseudomyxoma peritonei of ovarian origin, which was diagnosed by comprehensive genomic profiling with ploidy analysis in a series of primary, recurrent, and autopsy tumor specimens. Case presentation A 40-year-old woman was diagnosed with Stage IC2 mucinous ovarian tumor of borderline malignancy with mature cystic teratoma, upon clinical pathology. Immunohistochemical analysis suggested that the mucinous tumor was derived from the intestinal component of an ovarian teratoma. Three years later, intraperitoneal recurrence was detected, which subsequently progressed to pseudomyxoma peritonei. Genomic analysis detected KRAS (G12D), GNAS (R201C), and FBXW7 (R367*) variants in the primary tumor. In addition, the tumor showed aneuploidy with loss of heterozygosity (LOH) in all its chromosomes, which suggested that the primary ovarian tumor was derived from germ cells. Existence of one Barr body suggested the existence of uniparental disomy of the tumors throughout the genome, instead of a haploid genotype. All three pathogenic variants remained positive in the initial recurrent tumor, as well as in the paired DNA from the whole blood in pseudomyxoma peritonei. The pathogenic variant of KRAS (G12D) was also identified in the autopsy specimen of the appendix by droplet digital polymerase chain reaction. Conclusions This study pathologically and genetically confirmed that the primary ovarian borderline tumor was derived from the intestinal component of an ovarian teratoma, and that the subsequent pseudomyxoma peritonei progressed from the primary ovarian tumor. Integrative genomic analysis was useful to identify cellular origin of tumors, as well as to precisely interpret the process of disease progression.
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- 2022
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29. Ileo-dermoid fistula: A rare presentation of ovarian dermoid.
- Author
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Agrawal, Neha, Gothwal, Meenakshi, Yadav, Garima, Singh, Pratibha, Varshney, Vaibhav, Yadav, Taruna, and Khera, Sudeep
- Subjects
FISTULA ,INTESTINAL fistula ,BOWEL obstructions ,HYSTERO-oophorectomy ,OVARIAN tumors ,POSTMENOPAUSE - Abstract
Mature cystic teratoma is a benign ovarian tumor that usually presents in reproductive-age females. This tumor usually presents with pain abdomen, bloating, and a lump. Hereby, we describe a case of an ovarian dermoid presented with features of intestinal obstruction secondary to ileo-dermoid fistula formation. A 55-year-old postmenopausal female presented with lower abdominal pain, nausea, vomiting, and the feeling of a lump in the abdomen. On evaluation and imaging, it was diagnosed as a large ovarian dermoid (with malignant transformation) with multiple fistulous communications with ileal loops. The patient was managed by laparotomy, total abdominal hysterectomy with bilateral salpingo-oophorectomy, bowel resection, and anastomosis. The patient was discharged in good condition. The rupture of malignant ovarian dermoid followed by enterodermoid fistula formation and intestinal obstruction is rare. Complete cytoreduction and bowel repair should be considered for optimal results. [ABSTRACT FROM AUTHOR]
- Published
- 2023
- Full Text
- View/download PDF
30. Giant Mature Ovarian Cystic Teratoma in a Pediatric Patient: Case Report and Literature Review.
- Author
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Barragán-Curiel, Adolfo Eduard, Murillo-Zepeda, Carlos, Castro-Perez, Karla Fernanda, Alcalá-Aguirre, Francisco Omar, Díaz-Montoya, Lilian Sabinne, Ruiz-Félix, Omar Alfonso, Acevedo-Delgado, José Antonio, and Velasco-Preciado, Moyra
- Subjects
- *
CHILD patients , *DERMOID cysts , *OVARIAN tumors , *GERM cell tumors ,PELVIC tumors - Abstract
Mature cystic teratomas, also called dermoid cysts, are the most common germ-cell ovarian neoplasms in children. On average, ovarian dermoid cysts are slow-growing neoplasms with a mean size between 6.4 and 7.0 cm that enlarge at a rate of 1.8 mm/year; however, these can reach large dimensions. Giant ovarian tumors are defined as those having a maximum diameter equal to or more than 15 cm; these represent a therapeutic challenge as they increase the risk of wide wound size and surgical invasiveness. In this paper, we present a case of a 10-year-old Hispanic female that complained of abdominal pain, distension, and nausea. Physical examination revealed a mass on the left side of the abdomen and an axial computed tomography found a large pelvic tumor extending to the abdominal region. After a laparotomy approach, pathology evaluation confirmed the diagnosis of mature cystic teratoma. The patient recovered thoroughly and had no complications at a 6-month follow-up. We conducted a literature review including English and Spanish reports about giant ovarian teratomas; we retrieved 16 cases from 2003 to 2023. We concluded that giant ovarian tumors may be underreported, particularly in resource-limited areas where tumors might grow unrecognized, and that English-language bias might play a substantial role in literature reviews involving case reports and case series. [ABSTRACT FROM AUTHOR]
- Published
- 2023
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31. Neuroblastoma Arising in an Immature Teratoma of the Ovary in a 13-Year-Old.
- Author
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Felicelli, Christopher, Gulliver, Jessica, Gray, Corey, Khramtsov, Andrey, Blanco Jr., Luis Z., and Wadhwani, Nitin R.
- Abstract
Somatic malignancies arising in mature teratomas are exceedingly rare entities and even more so are those arising in immature teratomas. Here, we present a unique case of a 13-year-old who initially underwent ovarian sparing cystectomy for a 7.7 cm left ovarian mass with a pre-operative diagnosis of mature cystic teratoma. Histologically, all 3 germ cell layers were present and immature neuroepithelial tubules were also identified. Subsequent sections revealed a nodular lesion composed of neuropil, neuroblasts with a spectrum of maturation, and Schwannian-type stroma. The neuroblasts were diffusely positive for PHOX2B. Neuroblastoma arising in an immature teratoma has only been described in the literature once previously in an adult patient. [ABSTRACT FROM AUTHOR]
- Published
- 2023
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32. Ovarian Tumors
- Author
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von Allmen, Daniel, Fallat, Mary E., and Puri, Prem, editor
- Published
- 2021
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33. Familial History in Ovarian Teratomas Is a Frequent Event: 22 Years' Experience at a Single Center.
- Author
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Muller CO, Delehaye F, Gordon CT, Pire A, Cheikhelard A, Capito C, Rousseau V, Amiel J, and Sarnacki S
- Abstract
Background: Ovarian mature teratoma represents the most common benign neoplasm among pediatric germ cell tumors. This study reports the prevalence and characteristics of familial forms identified in a single center over 22 years in order to better understand possible familial predispositions to ovarian teratoma., Methods: The records of all patients who were surgically treated for ovarian teratoma between 2000 and 2022 were retrospectively reviewed. Families were systematically asked about a possible family history of ovarian tumors (benign or malignant) or testicular germ cell tumors., Results: Among the 136 patients operated on for ovarian teratoma, 24 cases of familial form (18%) were identified. Patients with familial history of ovarian mature teratoma were more likely to have multifocal tumors at diagnosis and metachronous lesions over time (p = 0.032 and p = 0.018, respectively) compared with patients without familial history. The family history concerned first-degree relatives in 12/24 cases (50%) including one case of twin monozygotic sisters, and affected two consecutive generations in three cases., Conclusion: A systematic examination made it possible to find up to 18% of familial forms in mature teratomas of the ovary, which in these cases seem to be more likely multifocal. The underlying genetic mechanisms are likely to be heterogeneous. Further work seems to be necessary to provide a better understanding of the genesis of germ cell tumors., (© 2025 Wiley Periodicals LLC.)
- Published
- 2025
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34. Small Ovarian Teratoma Causes Anti-N-methyl- D-aspartate Encephalitis.
- Author
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Muñoz-Becerra V, Méndez K, Cabrera-Martínez HA, and García-Irizarry AN
- Subjects
- Humans, Female, Young Adult, Ovariectomy, Teratoma diagnosis, Ovarian Neoplasms diagnosis, Ovarian Neoplasms pathology, Anti-N-Methyl-D-Aspartate Receptor Encephalitis diagnosis
- Abstract
This is the case of a 22-year-old female who arrived at our institution after experiencing refractory insomnia, disorganized behavior, inappropriate laughter, and anorexia. Upon admission, a physical examination revealed mutism, irritability, and visual hallucinations. Infectious, metabolic, and other, alternative, causes for the presenting symptoms were excluded. Brain magnetic resonance imaging and chest and abdominopelvic computed tomography scan results showed no evidence of pathology. Due to there being a high clinical suspicion of paraneoplastic encephalitis, treatment was initiated with intravenous (IV) high-dose steroids and IV immunoglobulins. An endovaginal ultrasound was performed, which revealed a small atypical intraovarian dermoid cyst. The patient's laboratory tests were positive for anti-N-methyl-D-aspartate antibodies within her cerebrospinal fluid. A laparoscopic right partial salpingectomy and an oophorectomy were performed on day 25, after the symptoms developed further. Histopathology confirmed the presence of a mature teratoma within the right ovary. After surgery, she returned to her baseline mental status, with no further complications.
- Published
- 2024
35. A case of Pseudomyxoma Peritonei of an unexpected origin
- Author
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Marie Csanyi-Bastien, France Blanchard, Aude Lamy, and Jean-Christophe Sabourin
- Subjects
Pseudomyxoma peritonei ,Ovarian pseudomyxoma peritonei ,Appendiceal pseudomyxoma peritonei ,Ovarian teratoma ,KRAS / GNAS mutations ,LAMN ,Pathology ,RB1-214 - Abstract
Abstract Background Pseudomyxoma peritonei (PMP) is a complex and partially understood disease defined by mucin deposits in the peritoneal cavity, mostly of appendiceal origin caused by the rupture of a mucocele often containing Low or High grade Appendiceal Mucinous Neoplasm (LAMN/HAMN). Other origins include primitive ovarian mucinous cystadenoma or cystadenocarcinoma almost always with an associated teratoma, but to our knowledge no case of ovarian teratomatous appendiceal-like mucocele with LAMN has been reported as a cause of PMP. Case presentation A 25-year old female with infertility was diagnosed with an isolated left ovarian tumor in a context of PMP. Histological examination revealed an ovarian teratoma containing an appendiceal-like structure with mucocele and LAMN, without any associated lesion of the appendix on full histological analysis. Molecular characterization of the ovarian lesion showed co-KRAS and GNAS mutations, as described in PMP of appendiceal origin, while only KRAS mutations are reported in primitive ovarian mucinous tumor. Conclusions Detection of co-KRAS and GNAS mutations in our case of ovarian teratomatous appendiceal-like mucocele with LAMN shows that when PMP derives from a mucinous ovarian lesion (with histological proof of none-appendiceal involvement), it is probably of a digestive teratomatous origin, emphasizing the need to actively search for tetatomatous signs in a context of ovarian PMP.
- Published
- 2021
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36. Therapeutic apheresis in the complex pathogenetic therapy of anti-NMDA encephalitis associated with ovarian teratoma at a late stage of the disease
- Author
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S. N. Bardakov, D. I. Skulyabin, A. N. Moshnikova, S. V. Lapin, A. A. Sokolov, E. A. Kondratyeva, T. V. Bulgakova, A. S. Manuilov, M. V. Zakharov, A. N. Belskikh, V. A. Tsargush, and R. V. Deev
- Subjects
anti‑nmda encephalitis ,therapeutic apheresis ,plasmapheresis ,ovarian teratoma ,treatment strategy ,Neurology. Diseases of the nervous system ,RC346-429 - Abstract
Anti‑NMDA encephalitis is a rare autoimmune disease of the central nervous system caused by the synthesis of autoantibodies to the NR1/NR2 subunits of the NMDA receptor, characterized by the development of acute mental, cognitive, motor, autonomic disorders, epileptic syndrome and central hypoventilation.The article presents a three‑year observation of patient 34 years old with anti‑NMDA ncephalitis associated with late‑ stage ovarian teratoma, accompanied by an increase titer of antibodies to NMDA receptors in serum to 1:640.Based on a detailed analysis of clinical, neurological, neuropsychological (MMSE, MoСA, FAB, 10 words test A.R. Luria) and laboratory‑instrumental characteristics of the disease (titer anti‑NMDA, level of IgG, IgM, IgA, lymphocyte subpopulations, EEG, MRI of the brain, pelvis) suggested a combination scheme of first and second line therapy. The sequential use of two cycles of medium‑volume membrane plasmapheresis (25–30 % of the circulating plasma volume, No. 5 + 5) was carried out in combination with pulse therapy with methylprednisolone 1.0 (No. 4 + 3) and cyclophasphamide 1.0 (No. 2 + 1) on background of persistent ovarian teratoma. Symptom regression was achieved by the end of the first cycle, and full recovery to the initial level of cognitive functions occurred after the second cycle, while maintaining the anti‑NMDA antibody titer to 1:160. After removal of ovarian teratoma, the level of anti‑NMDA decreased in a month to 1:40, and after 7 months it reached normal values (
- Published
- 2021
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37. Ganglioneuroblastoma arising in a Mature Cystic Teratoma of Ovary: Report and Literature review of an uncommon neoplasm
- Author
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Nikita Shah, Karolina Kilowski, Robert Holloway, and Charanjeet Singh
- Subjects
Ganglioneuroblastoma ,Immature teratoma ,Ovarian teratoma ,MYC amplification ,Sertoli tumor of ovary ,Gynecology and obstetrics ,RG1-991 ,Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,RC254-282 - Published
- 2022
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38. Calcified gliomatosis peritonei in a post-menopausal woman with mature ovarian teratoma.
- Author
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Sapiai, Nur Asma, Wan Ahmed, Wan Aireene, and Saminathan, S. Thadchaiani
- Subjects
- *
TERATOMA , *POSTMENOPAUSE , *COMPUTED tomography , *ANTI-NMDA receptor encephalitis , *ABDOMINAL pain , *GERM cell tumors , *OMENTUM - Abstract
Introduction: Gliomatosis peritonei (GP) is characterized by the presence of benign, mature glial implants in the peritoneum or omentum. Aim: Understanding unusual findings with clear knowledge of pathological comparisons makes diagnosis more reliable and guides future treatment. Case study: This is a case of a 70-years-old lady, post-menopausal, who presented with abdominal mass which progressively increased in size for the past 40 years. She also had constipation requiring laxatives and occasional lower abdominal pain. Her abdomen was clinically distended with a large hard central mass. Results and discussion: Computed tomography of the abdomen showed features of left ovarian teratoma with multiple gliomatosis peritonei. Histopathology of the mass post-surgery revealed a left ovarian mature cystic teratoma and the peritoneal deposits to be heavily calcified and fibrotic mature implants with no evidence of malignancy. Conclusions: Gliomatosis peritonei (GP) is a rare finding associated with ovarian teratoma and rare in postmenopausal women. It is important to appreciate a variety of radiological presentations of this condition to establish an accurate diagnosis. [ABSTRACT FROM AUTHOR]
- Published
- 2022
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39. Analysing triggers for anti‐NMDA‐receptor encephalitis including herpes simplex virus encephalitis and ovarian teratoma: results from the Queensland Autoimmune Encephalitis cohort.
- Author
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Swayne, Andrew, Warren, Nicola, Prain, Kerri, Gillis, David, Wong, Richard, and Blum, Stefan
- Subjects
- *
OVARIAN tumors , *VIRAL encephalitis , *HERPES simplex , *HEALTH outcome assessment , *TERATOMA , *ANTI-NMDA receptor encephalitis , *PUBLIC hospitals , *IMMUNOSUPPRESSIVE agents - Abstract
Background: Anti‐N‐methyl‐D‐aspartate‐receptor (anti‐NMDA‐R) encephalitis is a complex autoimmune neuropsychiatric syndrome. Although initially associated with ovarian teratoma, subsequent studies have demonstrated that anti‐NMDA‐R encephalitis may occur without an identifiable cause or be triggered by viral infection of the central nervous system such as herpes simplex virus encephalitis (HSVE). Aim: To present details from a Queensland cohort analysing triggering events in patients with anti‐NMDA‐R encephalitis in an Australian context. Methodology: The authors identified patients with anti‐NMDA‐R encephalitis diagnosed and managed through public hospitals in Queensland, Australia, between 2010 and the end of 2019. Data collected included demographics, clinical presentation, investigation results, management and outcome measurements. Results: Thirty‐one cases of anti‐NMDA‐R encephalitis were included in the study. Three cases of anti‐NMDA‐R encephalitis were triggered by prior HSVE, five cases were associated with ovarian teratoma and 23 cases had no identifiable trigger. There were an additional three cases in which anti‐NMDA receptor antibodies were present in the context of other disease states but where the patient did not develop anti‐NMDA‐R encephalitis. Cases triggered by HSVE or associated with ovarian teratoma experienced a more severe disease course compared to cases with no identifiable trigger. All groups responded to immunosuppressive or immunomodulatory therapy. Analysis of clinical characteristics revealed a complex heterogeneous syndrome with some variability between groups. Conclusion: In this cohort, the number of cases of anti‐NMDA‐R encephalitis triggered by HSVE is comparable to those triggered by ovarian teratoma. However, the majority of cases of anti‐NMDA‐R encephalitis had no identifiable trigger or associated disease process. [ABSTRACT FROM AUTHOR]
- Published
- 2022
- Full Text
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40. Ovary-Sparing Surgery for Ovarian Teratoma in an Infant with Nonbilious Vomiting.
- Author
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Gerry, Brielle V., Parrado, Raphael H., Hannay, Madison, and Cina, Robert A.
- Subjects
- *
TERATOMA , *OVARIAN tumors , *INFANTS , *TUMORS in children , *VOMITING , *ANTI-NMDA receptor encephalitis , *FERTILITY preservation - Abstract
Ovarian teratoma is the most common ovarian tumor in children with an overall incidence of 2.6 cases per 100,000 girls per year. Diagnosis and management are challenging due to its nonspecific presentation, malignancy determination, and need to conserve fertility. A previously healthy 5-month-old female infant presented with fever, abdominal distension, and nonbilious emesis, and an 8.2 × 6.8 × 6.1-centimeter pelvic mass originating from the left adnexa was found on imaging. Due to concern for malignancy and torsion, exploratory laparotomy and ovarian-sparing surgery (OSS) with resection of the mass were performed. Histology showed a grade 1 teratoma. This case illustrates a challenging diagnosis and its symptom overlap with other etiologies in infants. The keys to diagnosing and managing this entity are including ovarian pathology in the differential diagnosis and performing OSS whenever possible. Furthermore, ultrasound follow-up is needed to monitor for ipsilateral and contralateral ovarian tumors later in life. [ABSTRACT FROM AUTHOR]
- Published
- 2023
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41. On the quest for hidden ovarian teratomas in therapy-refractory anti-NMDA receptor encephalitis: a case report
- Author
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Christoph Cirkel, Anna Cirkel, Georg Royl, Alex Frydrychowicz, Lars Tharun, Steffen Deichmann, Achim Rody, Thomas F. Münte, and Björn Machner
- Subjects
NMDA encephalitis ,Ovarian teratoma ,Laparoscopy ,Oophorectomy ,Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 ,Neurology. Diseases of the nervous system ,RC346-429 - Abstract
Abstract Background Anti-NMDA-receptor (anti-NMDAR) encephalitis is often associated with ovarian teratoma (OT). The best management of anti-NMDAR encephalitis patients with normal imaging studies (pelvic ultrasound/MRI) but clinically high risk of OT (e.g., female, adult, black) is unclear. We report on the surprising diagnostic quest in a young black woman with anti-NMDAR encephalitis, in whom invasive procedures could finally disclose two OTs that were hidden from the initial non-invasive diagnostics. Case report The patient presented with a one-week history of psychotic symptoms, developing oro-facial dyskinesia, seizures and coma, eventually requiring mechanical ventilation. NMDA-receptor antibodies were positive in serum and cerebrospinal fluid. Pelvic MRI and transabdominal ultrasound were normal. Exploratory laparoscopy was also unremarkable at first, but due to a suspicious echogenic mass (15 mm) in the right ovary on perioperative transvaginal ultrasound, an ovarian incision was performed which led to the detection of a first OT and its removal via ovarian-preserving cystectomy. Following a severe therapy-refractory clinical course despite aggressive immunotherapy and tumor removal, 6 months later bilateral oophorectomy was performed as ultima ratio, disclosing a second micro-OT (6 mm) in the left ovary. Unfortunately, the patient has not improved clinically yet. Conclusions In therapy-refractory anti-NMDAR encephalitis with high risk of OT, small and bilateral OTs hidden from primary non-invasive diagnostics should be considered, which may trigger further invasive diagnostic procedures.
- Published
- 2022
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42. Struma Ovarii: A Rare Presentation in a Paediatric Patient
- Author
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Manjari Kishore, Avinash Kumar, and Vandana Mohan
- Subjects
histopathology ,ovarian teratoma ,thyroid tissue ,Medicine - Abstract
Struma Ovarii (SO) is a rare form of teratoma of ovary containing predominantly thyroid tissue, usually comprising more than 50% of the overall mass. It accounts for 1% of all ovarian tumours in adults. Due to its rare presentation in paediatric age group, the exact incidence is not known.The association of SO with hyperthyroidism has been noted in approximately 8% of cases. Radiological evaluation helps in preliminary diagnosis of a complex ovarian cyst, however, a definitive diagnosis of SO can only be made upon extensive histopathological evaluation. Present report is of SO in a 12-year-old female patient, who initially presented with pain abdomen, vomiting and hyperthyroidism with mildly elevated thyroid hormones Triiodothyronine (T3) and Tetraiodothyronine (T4). Magnetic Resonance Imaging (MRI) whole abdomen showed evidence of right-sided dermoid with mild ascites. An exploratory laparotomy was done followed by right ovarian cystectomy and histopathology revealed a mature teratoma predominantly comprising of thyroid tissue (>90% of total ovarian mass), thereby confirming the diagnosis of SO. After one month of surgical resection, the patient’s thyroid profile showed decrease in fT3 and fT4 levels. The index case highlights the unusual occurrence of SO in a paediatric patient along with the role of an extensive histopathological evaluation in diagnosis of the same.
- Published
- 2022
- Full Text
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43. A rare case of benign retrorectal teratoma in an adult female: Diagnostic challenges and successful surgical management.
- Author
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Shbani, Abdulrahman, Suleiman, Qamar, and Suleiman, Fadi
- Abstract
Retrorectal tumors are rare growths with various types which are found in the space behind the rectum. They can be diverse and are often diagnosed through imaging and surgery. A 31-year-old female patient came to the clinic with concerns about irregular periods and constipation, but no history of abdominal pain, pelvic pressure, or weight loss. She had a previous surgery to remove an ovarian teratoma when she was three months old. Physical exams and lab tests showed no significant findings, except for a pelvic ultrasound that revealed a normal right ovary with a small follicle and a missing left ovary due to prior surgery for a dermoid cyst. Another cyst, measuring 8.2 × 9.3 × 5.7 cm, was found behind the uterus, believed to be a presacral cyst possibly originating from elsewhere. Further investigation with a CT scan confirmed the presence of a large cyst near the rectum, leading to an open surgical procedure to remove it. The cyst, located deep behind the rectum and next to the levator ani muscle, contained a substance resembling cheese with hair, suggesting a benign dermoid cyst with granulation tissue. The surgery was successful, and the diagnosis was confirmed through histopathological analysis. Retrorectal teratomas are rare germ cell tumors that mainly affect children, often presenting with vague symptoms like constipation. Diagnosis involves imaging tests like ultrasound, CT scans, and MRI, with surgical removal being the primary treatment option. Recurrence rates are low with complete excision of benign tumors. Retrorectal or presacral teratomas are rare tumors with vague symptoms, making diagnosis difficult. They are often detected late and require radiological assessment for surgical planning. Treatment success hinges on a coordinated effort by skilled radiologists and surgeons specializing in pelvic and oncological care to ensure favorable outcomes with lower recurrence rates and risks. • Teratomas are the primary germ cell tumors found in children can be found in various parts of the body, including the head and neck, mediastinum, intraperitoneal or retroperitoneal areas, and the retrorectal or presacral space. • Symptoms of benign retrorectal tumors are often vague or related to pressure caused by the mass. They are typically discovered incidentally during pelvic or rectal exams or through imaging for other health concerns. • The clinical diagnosis of retrorectal teratomas can be done by multiple diagnostic methods like transabdominal ultrasound US, digital rectal examination (DRE), CT scan and MRI. The main treatment for RTs involves completely removing them surgically. [ABSTRACT FROM AUTHOR]
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- 2024
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44. Anti-N-Methyl-D-Aspartate Receptor Encephalitis Associated with Mature Ovarian Teratoma in a Young Adolescent: A Case Report.
- Author
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Begum, Jasmina, Aziz, Zaheda, Sahoo, Subrat Kumar, Majumder, Rishila, and Sable, Mukund Namdev
- Subjects
- *
ANTI-NMDA receptor encephalitis , *TERATOMA , *DERMOID cysts , *MAGNETIC resonance imaging , *CHORIONIC gonadotropins , *TEENAGE girls - Abstract
Ovarian teratoma has an uncommon association with anti-N-methyl- d -aspartate receptor (NMDAR) encephalitis. This is a life-threatening condition, and here, we describe a case of an adolescent girl with anti-NMDAR encephalitis caused by an ovarian teratoma. A 14-year-old girl presented with acute features of fever, severe headache, altered behavioral changes, delirium, autonomic instability, episodes of seizure, and involuntary movement over a period of 1 month. Upon investigation, electroencephalogram (EEG), computed tomography (CT), and magnetic resonance imaging (MRI) of her brain showed normal findings. Her serum and cerebrospinal fluid were positive for anti-NMDARs, and a diagnosis of anti-NMDAR encephalitis was made, so she received a course of intravenous methyl prednisolone and immunoglobulin and was discharged after her neurological status improved. Upon further workup, she was suspected to have a left ovarian dermoid cyst on transabdominal ultrasonogram, which was an incidental finding. Her tumor marker panel showed normal serum lactate dehydrogenase, beta human chorionic gonadotropin, inhibin, alpha-fetoprotein, and carcinoembryonic antigen and a cancer antigen 125 level of 71.5 U/L. She eventually underwent laparoscopic left ovarian cystectomy and received immunotherapy in the postoperative period. She was discharged in stable condition on postoperative day 4. On histopathological examination, the specimen revealed a mature cystic teratoma with glial component. One year after surgery, the patient has recovered completely and has no residual psychiatric or neurological symptoms. Complete recovery after surgery in cases of anti-NMDAR encephalitis with ovarian teratoma emphasizes the need for early recognition of the entity, search for underlying tumor, and tumor removal to improve the prognosis. [ABSTRACT FROM AUTHOR]
- Published
- 2022
- Full Text
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45. Original Articles Preoperative Hematological Parameters for Predicting Ovarian Torsion in Patients with Mature Cystic Teratoma
- Author
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Lee J, Park J, Lee HJ, Kim MJ, Lee YH, Chong GO, Hong DG, and Lee TH
- Subjects
leukocyte counts ,necrosis ,ovarian neoplasm ,ovarian teratoma ,ovarian reserve ,torsion ,Gynecology and obstetrics ,RG1-991 - Abstract
Jisun Lee,1 Jinyoung Park,2 Hyun Jung Lee,1 Mi Ju Kim,1 Yoon Hee Lee,3 Gun Oh Chong,3 Dae Gy Hong,3 Taek Hoo Lee1 1Department of Obstetrics and Gynecology, School of Medicine, Kyungpook National University, Kyungpook National University Hospital, Daegu, Republic of Korea; 2Department of Surgery, School of Medicine, Kyungpook National University, Kyungpook National University Hospital, Daegu, Republic of Korea; 3Department of Obstetrics and Gynecology, School of Medicine, Kyungpook National University, Kyungpook National University Chilgok Hospital, Daegu, Republic of KoreaCorrespondence: Taek Hoo LeeDepartment of Obstetrics & Gynecology, 130 Dongdeok-ro, Jung-gu, Daegu, 41944, Republic of KoreaTel +82-53-200-5735Fax +82-53-423-7905Email thlee@knu.ac.krObjective: The objective of this study is to evaluate the preoperative hematological parameters to predict ovarian torsion in patients with ovarian mature cystic teratoma. We also analyzed the diagnostic value of these makers to predict ovarian necrosis in cases of torsion as well as the effect of torsion on ovarian reserve.Patients and Methods: This is a retrospective study of 132 patients who received either laparoscopic or laparotomy surgery for OMCT at a single university hospital. Clinical characteristics and preoperative hematological parameters were compared between patients with or without torsion. Patients with torsion were further classified as infarction and non-infarction group. Preoperative parameters were compared between the two groups as well.Results: White blood cell (WBC) count, neutrophil percent, neutrophil count, and neutrophil to lymphocyte ratio (NLR) were higher in the torsion group (n=37) than the non-torsion group (n=95) (p< 0.05 for all). Although statistically insignificant, the preoperative anti-Mullerian hormone (AMH) was lower in the torsion group than the non-torsion group (4.07 ± 3.38 vs 6.1 ± 3.6, p=0.122). In cases of torsion, the infarction group showed higher WBC count and lymphocyte count but lower hemoglobin level and platelet to lymphocyte ratio (PLR) than the non-infarction group (p< 0.05 for all).Conclusion: The WBC count, neutrophil percent, neutrophil count, and NLR were higher in the cases of OMCT with torsion, and these parameters may be useful to diagnose OMCT with torsion. Also, adnexal torsion may deteriorate ovarian reserved as indicated by decreased AMH in torsion group.Keywords: leukocyte counts, necrosis, ovarian neoplasm, ovarian teratoma, ovarian reserve, torsion
- Published
- 2021
46. Paediatric anti-NMDA-receptor encephalitis with ovarian teratoma
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Masato Kojima, Sho Kurihara, Isamu Saeki, Hiroki Izumo, Yuichi Tateishi, Yoshiyuki Kobayashi, Nobutsune Ishikawa, Koji Arihiro, Shinya Takahashi, and Eiso Hiyama
- Subjects
Anti-N-Methyl-D-aspartate receptor (NMDAR) encephalitis ,Ovarian teratoma ,Paediatrics ,Pediatrics ,RJ1-570 ,Surgery ,RD1-811 - Abstract
Herein, we report two paediatric cases of ovarian teratoma-associated anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis. We performed surgical resection of the teratomas—enucleation in case 1 and salpingo-oophorectomy in case 2. The pathological diagnoses were immature teratomas with a small number of neuroglial elements, and cerebrospinal fluid (CSF) anti-NMDAR antibody test was positive in both cases. In case 1, the patient showed excellent recovery, and in case 2, neurological symptoms gradually improved. Paediatric cases of ovarian teratoma-associated anti-NMDAR encephalitis are rare, and early surgical resection and immunotherapy are important for good prognosis. We highlight the occurrence of paediatric cases of ovarian teratoma-associated anti-NMDAR encephalitis to create awareness and highlight the importance of surgical resection despite severe neurological symptoms.
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- 2022
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47. Ovarian Teratoma-Related Paraneoplastic Neurological Syndromes.
- Author
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Lin, Jingfang, Wang, Minjin, Wang, Jierui, and Li, Jinmei
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ANTI-NMDA receptor encephalitis ,PARANEOPLASTIC syndromes ,OPSOCLONUS-Myoclonus syndrome ,GERM cell tumors ,NEUROLOGICAL disorders ,SYMPTOMS - Abstract
Paraneoplastic neurological syndromes (PNSs) are a group of neurological disorders triggered by an underlying remote tumor. Ovarian teratoma (OT) is the most common histologic type of germ cell tumor in females. The most common PNSs associated with OT is anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis. However, with the increasing number of new antibodies reported over the last decade, the clinical spectrum of OT-related PNSs is also expanding. Our knowledge of OT-related PNSs is still far from complete. Here, we provide a comprehensive review of the most recent findings in the field of OT-related PNSs, with a particular focus on their clinical and pathological characteristics. Overall, the description of neuronal antibodies in PNSs associated with OT strongly suggests that antibodies may be responsible for the clinical symptoms in some cases. OT-related PNSs are associated with various clinical manifestations, including anti-NMDAR encephalitis, limbic encephalitis, encephalomyelitis, progressive cerebellar syndrome and opsoclonus-myoclonus syndrome. The pathological characteristics of the OT suggest that the mechanism of PNSs is probably due to heteromorphic neurons in the tumor tissue, the ectopic expression of the antigens in neural tissue within the teratomas and patients' unusual immune response. Despite the severity of the neurological syndromes, most patients with OT-related PNSs showed good neurologic response to early tumor resection combined with immunotherapy. To further advance the management of OT-related PNSs, additional studies are needed to explore this complex topic. [ABSTRACT FROM AUTHOR]
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- 2022
- Full Text
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48. Prostatic tissue: an unexpected finding in a mature ovarian teratoma: Case report and systematic literature review.
- Author
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Pecorella, Irene, Framarino dei Malatesta, Maria Luisa, Riganelli, Lucia, Ciardi, Gaia, and Porpora, Maria Grazia
- Abstract
Purpose: Prostatic tissue in an ovarian teratoma is an unusual finding, whose initiation in a 46, XX karyotype tissue is yet to be clarified. We present a case from our files and review the literature for this intriguing finding. Methods: Unstained histology sections of the ovarian teratoma containing prostatic tissue were evaluated using immunohistochemistry for PSA and androgen receptor. Results: Both PSA and androgen receptor immunostainings were positive in the prostatic tissue. From the literature review, it appears that most of the patients (74%) with similar findings were either pregnant or experiencing a miscarriage, menopausal or infertile at presentation, showing that an imbalanced hormone status is frequently associated with the presence of male structures in ovarian teratomas. [ABSTRACT FROM AUTHOR]
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- 2022
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49. Genetic diagnosis of pseudomyxoma peritonei originating from mucinous borderline tumor inside an ovarian teratoma.
- Author
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Taguchi, Ayumi, Rokutan, Hirofumi, Oda, Katsutoshi, Tanikawa, Michihiro, Tanimoto, Saki, Sone, Kenbun, Mori, Mayuyo, Tsuruga, Tetsushi, Kohsaka, Shinji, Tatsuno, Kenji, Shinozaki-Ushiku, Aya, Miyagawa, Kiyoshi, Mano, Hiroyuki, Aburatani, Hiroyuki, Ushiku, Tetsuo, and Osuga, Yutaka
- Subjects
OVARIAN tumors ,GENETIC disorder diagnosis ,TERATOMA ,GENOMICS ,TERATOCARCINOMA ,GENETIC variation - Abstract
Background: Pseudomyxoma peritonei is a rare disease condition mainly caused by primary mucinous tumors from the appendix and rarely from the ovary, such as when mucinous ovarian tumors arise from within a teratoma. Molecular analyses of pseudomyxoma from the appendix showed that KRAS and GNAS pathogenic variants are common genetic features of pseudomyxoma peritonei. However, the origin of the tumors is difficult to be identified via genetic variants alone. This study presents a case of pseudomyxoma peritonei of ovarian origin, which was diagnosed by comprehensive genomic profiling with ploidy analysis in a series of primary, recurrent, and autopsy tumor specimens. Case presentation: A 40-year-old woman was diagnosed with Stage IC2 mucinous ovarian tumor of borderline malignancy with mature cystic teratoma, upon clinical pathology. Immunohistochemical analysis suggested that the mucinous tumor was derived from the intestinal component of an ovarian teratoma. Three years later, intraperitoneal recurrence was detected, which subsequently progressed to pseudomyxoma peritonei. Genomic analysis detected KRAS (G12D), GNAS (R201C), and FBXW7 (R367*) variants in the primary tumor. In addition, the tumor showed aneuploidy with loss of heterozygosity (LOH) in all its chromosomes, which suggested that the primary ovarian tumor was derived from germ cells. Existence of one Barr body suggested the existence of uniparental disomy of the tumors throughout the genome, instead of a haploid genotype. All three pathogenic variants remained positive in the initial recurrent tumor, as well as in the paired DNA from the whole blood in pseudomyxoma peritonei. The pathogenic variant of KRAS (G12D) was also identified in the autopsy specimen of the appendix by droplet digital polymerase chain reaction. Conclusions: This study pathologically and genetically confirmed that the primary ovarian borderline tumor was derived from the intestinal component of an ovarian teratoma, and that the subsequent pseudomyxoma peritonei progressed from the primary ovarian tumor. Integrative genomic analysis was useful to identify cellular origin of tumors, as well as to precisely interpret the process of disease progression. [ABSTRACT FROM AUTHOR]
- Published
- 2022
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50. HLA-A and HLA-DRB1 may play a unique role in ovarian teratoma-associated anti-N-methyl-D-aspartate receptor encephalitis
- Author
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Xiaoya Zhao, Juan Li, Qian Zhu, Guiling Liang, Wei Xia, Xiaoqing He, Chenfeng Zhu, Hang Qi, Bo Deng, Xiangjun Chen, and Jian Zhang
- Subjects
Ovarian teratoma ,Anti-N-methyl-D-aspartate receptor encephalitis ,HLA-A ,HLA-DRB1 ,Autoantibodies ,Gynecology and obstetrics ,RG1-991 ,Reproduction ,QH471-489 - Abstract
Abstract Background Ovarian teratoma-associated anti-N-methyl-D-aspartate receptor encephalitis (NMDAR-E) is a severe autoimmune neurological disorder, and the influence of teratoma-induced autoantibodies on the pathogenesis remains unclear. Methods Ovarian teratoma tissues were collected from teratoma patients with and without NMDAR-E. Proteins were extracted and then analyzed using iTRAQ-coupled LC–MS/MS, which was followed by bioinformatics analysis. Candidate proteins were verified by Western blotting and immunohistochemistry. Results In total, 36 differentially expressed proteins (DEPs) were identified between the control group and NMDAR-E group, and the bioinformatics analysis revealed that the DEPs were mainly involved in immune-related pathways, especially HLA-A and HLA-DRB1. The western blotting results for HLA-A and HLA-DRB1 were consistent with the results of the iTRAQ analysis. Additionally, the immunohistochemical data revealed that the aggregation of HLA-A (+) and HLA-DRB1 (+) cells was more apparent in the teratoma tissues of NMDAR-E patients compared with that in the tissues of controls. Conclusion Our investigation indicated that HLA-A and HLA-DRB1 might be involved in mediating ovarian teratoma-associated NMDAR-E. These findings provide new insights into the pathophysiological mechanisms and provide information for the functional exploration of proteins in the future.
- Published
- 2020
- Full Text
- View/download PDF
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