7,178 results on '"dysgerminoma"'
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2. Utilidad de la linfadenectomía pélvica en la etapificación del disgerminoma de ovario.
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Zeferino-Toquero, Moisés, Rivas-Corchado, Luz M., Maytorena-Córdova, Germán, Reyna-Amaya, Horacio, and Bañuelos-Flores, Joel
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Copyright of Cirugía y Cirujanos is the property of Publicidad Permanyer SLU and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) more...
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- 2024
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3. Swyer Syndrome: Clinical Case of Gonadal Dysgenesis in a 15-year-old Girl
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Irina V. Karachentsova, Elena V. Sibirskaya, Tatyana G. Dyadik, Mariia Yu. Chernysheva, Kristina A. Osmanova, Varvara M. Golubkova, Anna V. Arutunyan, and Angelina A. Sysoeva
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swyer syndrome ,gonadoblastoma ,dysgerminoma ,karyotyping ,gonadal dysgenesis ,Pediatrics ,RJ1-570 ,Therapeutics. Pharmacology ,RM1-950 - Abstract
Swyer syndrome is a rare genetic disorder in which gonadal dysgenesis and karyotype 46, XY are observed. In the postnatal and prepubescent period, this disease has no clinical manifestations and is asymptomatic, which makes diagnosis difficult. The first signs of the syndrome appear in puberty in the form of underdevelopment of secondary sexual characteristics. This review presents the criteria based on which such a diagnosis as Swyer syndrome can be made. The main diagnostic methods are highlighted, the possibilities of both surgical treatment of patients and drug treatment due to hormone replacement therapy are considered. Verification of the syndrome contributes to a more thorough examination, which will allow you to determine management tactics and avoid complications from other organs and systems. more...
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- 2024
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4. Germ Cell Tumors in 46, XY Gonadal Dysgenesis
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Raiz A Misgar, Sajad U Islam Mir, Mohmad H Mir, Mir I. Bashir, Arshad I. Wani, and Shariq R. Masoodi
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46 ,disorders of sex development ,dysgerminoma ,germ cell tumors ,seminoma ,xy gonadal dysgenesis ,Diseases of the endocrine glands. Clinical endocrinology ,RC648-665 ,Diseases of the digestive system. Gastroenterology ,RC799-869 - Abstract
Introduction: To present the clinical data, investigative profile, management, and follow-up of patients with 46, XY gonadal dysgenesis with germ cell tumors from the endocrine unit of a tertiary care university hospital. Materials and Methods: This retrospective study included 3 cases of 46, XY gonadal dysgenesis with germ cell tumors evaluated and managed at the Department of Endocrinology, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, Kashmir, over a period of 13 years from (September 2008 to December 2021). Results: Over a period of 13 years, we diagnosed and managed 7 patients with 46, XY gonadal dysgenesis. This included 4 patients with pure gonadal dysgenesis (PGD; Swyer syndrome), 2 patients with mixed gonadal dysgenesis (MGD), and one patient with partial gonadal dysgenesis. Out of these 7 patients, three patients developed germ cell tumors, one patient with MGD, and two patients with pure PGD (Swyer syndrome). In all three patients, germ cell tumor was the first presentation of DSD. The patient with MGD presented with primary amenorrhea and virilization, while the two patients with PGD presented as phenotypic females with primary amenorrhea and pelvic mass. All three patients developed seminomatous cancers. Patient with MGD developed seminoma and the two patients with PGD (Swyer syndrome) developed dysgerminoma. The patients were managed with bilateral gonadectomy with removal of the tumor. In addition, the 2 patients with PGD (Swyer syndrome) received combined chemotherapy. On a follow up ranging from 1 to 10 years, all three patients are disease free. Conclusions: we conclude that germ cell tumors may be the first presentation of 46, XY gonadal dysgenesis. In all phenotypic females with primary amenorrhea and dysgerminoma, karyotype is a must to uncover the diagnosis of PGD. In addition virilization may be clue to the presence of germ cell tumor in a patient with 46, XY gonadal dysgenesis. more...
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- 2024
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5. Dysgerminoma with Syncytiotrophoblastic Giant Cells Associated with a Concurrent Ectopic Pregnancy.
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Aden, Durre, Saeed, Noora, Hassan, Mahboob, and Haiyat, Sadaf
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Background: Dysgerminomas constitute around 1–2% of all germ cell tumours. It is very very rare to have dysgerminoma with concurrent pregnancy with an incidence of 0.2–1 per 100,000 pregnancies. It is extremely difficult to conceive with no assisted reproductive interventions and carry it till completion with no complications in a concurrent dysgerminoma. Dysgerminoma has a characteristic specific histomorphology and is easy to diagnose. However, occasionally, syncytiotrophoblastic differentiation can be seen in dysgerminoma although it is a rare histopathological finding. Also, the raised serum B-HCG levels due to the syncytiotrophoblast giant cells seen can lead to a diagnostic dilemma. Clinical presentation: Here we report a case of a 27-year-old 8-week pregnant female who came to the hospital with chief complaints of left-sided abdominal pain and a lump abdomen. Clinical and radiological examination revealed a left ovarian tumour of malignant aetiology with the presence of right ectopic pregnancy. A staging laparotomy with left salpingoophorectomy was performed and sent for histopathological examination. It was reported as dysgerminoma with syncytiotrophoblastic giant cells. The right fallopian tube showed products of conception. Finally, she was planned for adjuvant chemotherapy and serial B-HCG levels. Summary: This case is reported not only just for its rare histopathological finding but also for the diagnostic dilemma it causes both to the surgeon as well as the pathologist. There are various factors which can act as prognosticators such as early suspicion of a tumor, radiological findings, surgery, histopathological examination, and oncology team. [ABSTRACT FROM AUTHOR] more...
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- 2024
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6. SRY-positive 45,X/46,XY karyotype in a phenotypically Turner-like Chinese adolescent female with ovarian dysgerminoma and gonadoblastoma.
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Zhou, Jiahong, Zhan, Ping, Cheng, Yang, Luo, Qing, Chai, Li, Yuan, Lan, Zhu, Xidan, and Liu, Jinbo
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45,X/46,XY mosaicism is a rare condition with clinical and genetic heterogeneity and have a greatly increased risk of developing germ cell tumors. We describe a rare 45,X/46,XY Chinese girl with malignant tumors, especially focusing on the molecular genetics of gonadal tumor. We report a phenotypically Turner-like Chinese adolescent girl who presented primary amenorrhea and a pelvic mass as the chief complaint, which finally demonstrated dysgerminoma replacing the left gonad and gonadoblastoma arising from right gonad respectively. Her chromosome karyotype was 45,X(4)/46,XY(46); Y-chromosome microdeletions in AZFb regions were found on gonadal DNA rather than peripheral blood lymphocyte (PBL) DNA, while no variants were found in the promoter and coding region of SRY gene in both PBL and gonadal tissues. She underwent bilateral gonadectomy; no recurrence or serious complications were identified after 3 years of follow-up. This case emphasizes the probable correlation between Y chromosome microdeletions in gonadal tissue and the severity of the phenotype in patients with 45,X/46,XY mosaicism and highlights the importance of clinical genetic testing at the chromosomal and molecular level. [ABSTRACT FROM AUTHOR] more...
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- 2024
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7. Histomorphological and immunohistochemical studies on canine ovarian tumours
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Pragathi, A., Chowdary, Ch. Sudha Rani, Samatha, V., Subhashini, N., Devi, V. Rama, and Vardhan, M. Shantha
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- 2024
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8. Dysgerminoma Probably Due to a Novel SOHLH1-pathogenic Variant Causing Familial Ovarian Dysgenesis.
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Villarroel, Camilo E., Zenteno, Juan C., Barragán-Arévalo, Tania, Leal-Anaya, Paula, Pérez-Muñoz, Estela, Frías-Soria, Christian L., López-Corella, Eduardo, and Yokoyama, Emiy
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Pathogenic variants of the SOHLH1 gene are responsible for an autosomal recessive form of ovarian dysgenesis; this gene encodes a transcription factor expressed early in spermatogonia and oocytes and contributes to folliculogenesis. Previously, four affected women from two unrelated families reported homozygous variants in the SOHLH1 gene, but none had a history of gonadal malignancy or a histologic description. We present two sisters and their paternal great-aunt with a history of primary amenorrhea, pubertal delay, and hypergonadotrophism who came from an inbred Mexican family. The proband was the younger sister who was referred for bilateral dysgerminoma. She had a normal blood karyotype, and whole-exome sequencing analysis revealed a novel homozygous missense variant, c.275C>T, in SOHLH1; several family members were also analyzed. In addition to pure dysgerminoma, histopathological analysis revealed an ovarian cortex with fibrosis and almost total absence of follicles. This work confirms the inheritance of ovarian dysgenesis 5, supports the occurrence of cell loss in mouse models, and suggests that affected women should undergo periodic imaging surveillance due to the likely risk of tumor development. [ABSTRACT FROM AUTHOR] more...
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- 2024
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9. Germ Cell Tumors in 46, XY Gonadal Dysgenesis.
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Misgar, Raiz A., Islam Mir, Sajad U., Mir, Mohmad H., Bashir, Mir I., Wani, Arshad I., and Masoodi, Shariq R.
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GERM cell tumors ,SEX differentiation disorders ,GONADAL dysgenesis ,GONADAL diseases ,MEDICAL sciences - Abstract
Introduction: To present the clinical data, investigative profile, management, and follow-up of patients with 46, XY gonadal dysgenesis with germ cell tumors from the endocrine unit of a tertiary care university hospital. Materials and Methods: This retrospective study included 3 cases of 46, XY gonadal dysgenesis with germ cell tumors evaluated and managed at the Department of Endocrinology, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, Kashmir, over a period of 13 years from (September 2008 to December 2021). Results: Over a period of 13 years, we diagnosed and managed 7 patients with 46, XY gonadal dysgenesis. This included 4 patients with pure gonadal dysgenesis (PGD; Swyer syndrome), 2 patients with mixed gonadal dysgenesis (MGD), and one patient with partial gonadal dysgenesis. Out of these 7 patients, three patients developed germ cell tumors, one patient with MGD, and two patients with pure PGD (Swyer syndrome). In all three patients, germ cell tumor was the first presentation of DSD. The patient with MGD presented with primary amenorrhea and virilization, while the two patients with PGD presented as phenotypic females with primary amenorrhea and pelvic mass. All three patients developed seminomatous cancers. Patient with MGD developed seminoma and the two patients with PGD (Swyer syndrome) developed dysgerminoma. The patients were managed with bilateral gonadectomy with removal of the tumor. In addition, the 2 patients with PGD (Swyer syndrome) received combined chemotherapy. On a follow up ranging from 1 to 10 years, all three patients are disease free. Conclusions: we conclude that germ cell tumors may be the first presentation of 46, XY gonadal dysgenesis. In all phenotypic females with primary amenorrhea and dysgerminoma, karyotype is a must to uncover the diagnosis of PGD. In addition virilization may be clue to the presence of germ cell tumor in a patient with 46, XY gonadal dysgenesis. [ABSTRACT FROM AUTHOR] more...
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- 2024
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10. Malignant ovarian and testicular germ cell tumors: Common characteristics but different prognoses.
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Sköld, Camilla, Jansson, Anna K, and Glimelius, Ingrid
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GERM cell tumors , *TESTICULAR cancer , *PROGNOSIS , *THERAPEUTICS , *OVERALL survival , *OVARIES - Abstract
Both ovarian and testicular germ cell tumors (GCTs) arise from the primordial germ cell and share many similarities. Both malignancies affect mainly young patients, show remarkable responsiveness to cisplatin‐based therapy, and have an excellent prognosis, which also highlights the importance of minimizing long‐term side effects. However, certain differences can be noted: The spreading of the disease differs, and the staging system and treatment recommendations are dissimilar. Moreover, the prognosis for ovarian GCTs is significantly inferior to that for testicular cancer, as exemplified in this review comparing the survival in Swedish patients diagnosed with testicular (1995–2022) and ovarian (1990–2018) GCTs. The 5‐year overall survival in ovarian GCTs was 85.2%, versus 98.2% for testicular GCTs. How can this be explained? One reason may be the difference in knowledge, experience, and evidence because the incidence rate of testicular cancer is more than 15 times that of ovarian GCTs. Given the rarity of the disease in women and the lack of established guidelines, a comprehensive understanding of the disease and treatment decisions is challenging. The main objective of this review is to derive insights from testicular GCTs (seminoma and non‐seminoma) by reviewing etiological, tumor biological, and clinical knowledge, and to thereafter suggest actions for ovarian GCTs based on this. We hypothesize that by adopting specific treatment strategies from testicular GCTs—including de‐escalating adjuvant chemotherapy for low‐risk patients and implementing more standardized and intensive treatment protocols in cases of relapse—we can improve the prognosis and minimize long‐term side effects in ovarian GCT patients. [ABSTRACT FROM AUTHOR] more...
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- 2024
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11. Spontaneous pregnancy after fertility‐sparing surgery and adjuvant chemotherapy for advanced pure dysgerminoma: A case report.
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Göç, Göksu, Göç, Alida, Kastrati, Gezim, Baftiu, Dardan, and Kurshumliu, Fisnik
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ADJUVANT chemotherapy , *GERM cell tumors , *PREGNANCY , *FERTILITY preservation , *SURGERY , *CHILDBIRTH - Abstract
Key Clinical Message: Fertility‐sparing surgery and appropriate adjuvant chemotherapy for advanced malignant ovarian germ cell tumors have excellent survival results and promising reproductive and obstetric outcomes. This case report aims to demonstrate the potential feasibility and success of fertility‐sparing surgery (FSS) coupled with adjuvant chemotherapy in treating advanced malignant ovarian germ cell tumor (MOGCT), focusing on pure dysgerminoma, fertility, and achieving spontaneous pregnancy. The patient was a 23‐year‐old female who initially presented with complaints of abdominal distension and a palpable mass and was subsequently diagnosed with advanced MOGCT. The patient provided a complete clinical and radiological response to FSS with complete surgical staging and cisplatin‐based chemotherapy (bleomycin, etoposide, and cisplatin). Despite being diagnosed with advanced MOGCT and treated with FSS and adjuvant chemotherapy, she later experienced spontaneous pregnancy, giving birth to a healthy child. This case study demonstrated the potential for successful fertility preservation and pregnancy in advanced‐stage MOGCT patients treated with personalized treatment approaches. Nevertheless, a broader investigation is needed to understand the relevant complex dynamics and to ascertain whether FSS with adjuvant chemotherapy could be a reliable approach in treating advanced MOGCT. [ABSTRACT FROM AUTHOR] more...
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- 2024
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12. Ovarian Germ Cell Tumors in North-Western India: A Comprehensive 3-Year Retrospective Study of 145 Cases at a Tertiary Cancer Hospital.
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Sulaniya, Chandrakanta, Lakhera, Kamal Kishor, Babu, Agil, Patel, Pinakin, Singh, Suresh, Mehta, Deeksha, and Singhal, Pranav Mohan
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Germ cell tumors encompass a broad spectrum of neoplasms arising from germ cell lineage, demonstrating varying histological profiles and clinical presentations. These tumors encompass a range of benign and malignant entities. While global trends provide insights into their prevalence, specific regional variations, such as those within North-Western India, remain less explored. This study seeks to bridge this knowledge gap by examining the prevalence and characteristics of germ cell tumors within a tertiary cancer hospital. In this retrospective analysis, all cases of germ cell tumors diagnosed over a 3-year period in the specified tertiary cancer hospital were included. Cases with incomplete records or inadequate pathological data were excluded. Data encompassing histological subtypes, patient age distribution, clinical presentations, and histopathological features were collected and analyzed. The study comprised 145 cases of germ cell tumors. Teratomas were the most prevalent subtype, with mature teratomas accounting for the majority. The highest incidence occurred within the 21–30-year age group with a mean age of 24.77 years. Abdominal mass (56%) and abdominal pain (34%) were the prominent clinical presentations. Benign cases constituted the majority 85.5%. Solid tumors (p < 0.00001) and tumors more than 10 cm (p.029028) were found to have a high propensity to be malignant, which was proven to be statistically significant. This study comprehensively explains germ cell tumors' prevalence, clinical features, and histopathological subtypes in a tertiary cancer hospital in North-Western India. The predominance of teratomas, particularly mature ones, aligns with global trends. The age distribution and clinical presentations reflect common patterns. The diverse histopathological appearances underscore the heterogeneous nature of germ cell tumors. This study offers valuable insights for clinical management and further regional research. [ABSTRACT FROM AUTHOR] more...
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- 2024
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13. Review of neoplasia in fish at a large display aquarium, 2005–2021.
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Wright, Sarah E., Pawlik, Michael, Snyman, Heindrich N., and Haulena, Martin
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MARINE fishes ,SALTWATER fishing ,AQUARIUMS ,BENIGN tumors ,AUTOPSY ,TUMORS - Abstract
Fish maintained in managed care may have longer lifespans as a result of advances in veterinary medicine and husbandry and reduced risk of predation. Neoplasia is of increasing interest in managed aquarium populations. However, few studies have systematically evaluated neoplasia in managed fish populations. Our objective in this retrospective study was to review and describe neoplasia diagnosed in fish at a large public display aquarium between 2005 and 2021. Any fish diagnosed with neoplasia on either antemortem or postmortem evaluation during the study period was included, and all medical records, biopsy, and autopsy reports were reviewed. Sixty-two fish met the inclusion criteria; 37 species were included in the study population, most of which were tropical freshwater fish (n = 34 fish). Thirty-two types of neoplasia were identified. Ten fish had benign neoplasms, and 53 fish had malignant neoplasms. The most common neoplasms were of epithelial and neuroectodermal origin. The most common site of tumor origin was the skin. Our data suggest that mesenchymal neoplasms may be more common in cold saltwater fish than in tropical freshwater and saltwater fish. Malignant neoplasms were most commonly diagnosed in the study population and should be a top differential when neoplasms are identified in fish managed under human care. Our study contributes to the overall knowledge of the health of aquarium fish and may aid clinicians in characterizing neoplasia that may be present in fish under human care. [ABSTRACT FROM AUTHOR] more...
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- 2024
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14. Surveillance, Prevention, and Management of Neoplasms in Children with DSD
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Bhardwaj, Ankur, Goel, Prabudh, Agarwala, Sandeep, and Ratan, Simmi K., editor
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- 2024
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15. 完全型雄激素不敏感综合征合并无性细胞瘤-例.
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尹雨鑫 and 王长河
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Androgen insensitivity syndrome (AIS) is rare and difficult to diagnose at an early stage. This paper reports the diagnosis and treatment of a patient with complete androgen insensitivity syndrome (CAIS) complicated with dysgerminoma. The patient was admitted to the hospital due to abdominal distension for 2 days and received color ultrasound in the outpatient department indicating pelvic tumor. After admission, pelvic tumor resection was performed. Since the cause of hyperandrogenemia was unknown before surgery, it was diagnosed as CAIS complicated with dysgerminoma by chromosome analysis and genetic testing, finally underwent radical resection of gonadal malignant tumor. At present, the patient is still under close follow-up and his condition is stable. Through retrospective analysis of the clinical characteristics and diagnosis and treatment of this case, in order to improve the clinical understanding of the disease. [ABSTRACT FROM AUTHOR] more...
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- 2024
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16. Paraneoplastic systemic lupus erythematosus associated with dysgerminoma: a case report and literature review
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Ben David, Ran, Abu-Shakra, Mahmoud, Meirovitz, Mihai, Test, Tsafnat, Medvedev, Nikita, and Sagy, Iftach
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- 2024
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17. Clinicopathological Study of Ovarian Germ Cell Tumours in Tertiary Care Hospital, Tamil Nadu, India: A cross-sectional Study
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V LOKESHWARI, PI OSHIN, M GOMATHI, and V ESWARI
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alpha-fetoprotein ,dysgerminoma ,teratoma ,tumour marker ,yolk sac tumour ,Medicine - Abstract
Introduction: Ovarian germ cell tumours are a heterogeneous group of neoplasms derived from primitive germ cells of the embryonic gonad, either directly or indirectly. They can be classified as benign and malignant, with slow and rapid growth and spread, respectively. Benign ovarian germ cell tumours are common, while malignant tumours are rare and account for about 2.6% of all ovarian malignancies. They are more common in the second and third decades of life and typically present with abdominal mass, pain, and elevated serum tumour markers, which aid in primary diagnosis and follow-up. Aim: To analyse the distribution of germ cell tumours in the ovary in relation to age, parity, mode of presentation, biochemical markers, histomorphological patterns, and immunohistochemical markers. Materials and Methods: This cross-sectional study was conducted at Department of Pathology, Sree Balaji Medical College, Hospital and Research Institute, Chromepet, Chennai, Tamil Nadu, India. The study involved 86 ovarian specimens, of which 25 were germ cell tumours. Complete clinical history, radiological findings, and pre-operative laboratory test values were recorded. The ovarian specimens were carefully examined for gross appearances, fixed in 10% neutral buffered formalin for 24-48 hours, and subjected to histopathological processing, routine and special staining, and immunohistochemical study after observing the different morphological patterns of the ovarian specimens received. Results: The age range of presentation was between 14 years and 58 years. Seventeen patients were parous (14 benign and 3 malignant), and eight (5 benign and 3 malignant) were nulliparous. Abdominal mass and abdominal pain were the most common modes of presentation. Out of 25 germ cell tumours, 19 were benign cystic mature teratomas, 2 were immature teratomas, 1 was a yolk sac tumour, 2 were dysgerminomas, and 1 was a carcinoid tumour, with 6 being malignant and 19 being benign tumours. Among the 6 malignant ovarian tumours, 5 cases had raised serum tumour markers {cancer antigen-125 (CA-125), Alpha-Fetoprotein (AFP)} pre-operatively, and the levels reduced and became normal after surgery. Among the 2 cases of immature teratoma, one was Grade-II and the other was Grade-III. For one case with mixed tumour components, CD-30 and α-fetoprotein immunohistochemical markers were performed, showing negative and positive results, respectively. Conclusion: Among the histopathological subtypes, benign cystic teratomas were the most common ovarian germ cell tumours in this study. Both benign and malignant tumours presented with abdominal pain and abdominal mass. Most of the tumours were diagnosed between the ages of 21 and 40 years. In this study, α-fetoprotein immunohistochemical marker showed strong positivity, confirming a single tumour component. more...
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- 2023
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18. Germ Cell Tumors Ovary 'Dysgerminoma' with Mayer-Rokitansky-Kuster-Hauser Syndrome
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Rijanto Agoeng Basoeki, Alyaa Nabiila, Adinda Narulitia, Yoga Eko Saputra, Trimayanti Olfah, Eko Nursucahyo, and Muhammad Anas
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dysgerminoma ,ovarian cancer ,germ cell tumors ,mrkh syndrome ,female genital congenital malformation ,Medicine (General) ,R5-920 - Abstract
Background: Ovarian Germ Cell Tumors originate from primitive germinal cells and can be either malignant or benign. MRKH syndrome is characterized by congenital hypoplasia of the uterus and upper vagina and can occur due to disrupted fusion of the Mullerian ducts. Diagnosis of ovarian tumors in MRKH patients is difficult but can be characterized by abdominal pain and distended. Objective: The aim of this case report is to explain the diagnostic methods and interventions performed in patients with ovarian tumors and MRKH syndrome. Case Presentation: A 25-year-old female came to the hospital with complaints of a lower abdominal lump three months ago. It was followed by severe pain, weight loss, shortness of breath, and yellowish vaginal discharge. Physical examination showed anemia, obesity, and a vagina size of 7cm with a probe. Chest X-ray showed a mass in the mediastinum and pleural effusion, and USG showed suspicion of an ovarian cyst and uterine agenesis. Conclusion: Ovarian tumor with MRKH syndrome is a rare case. Diagnosis was based on the patient’s history, clinical findings, radiologic examination, and confirmed with laparotomy and histopathology. Regular examinations are recommended to prevent and identify genital tract problems and pelvic diseases in women, especially adolescents. more...
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- 2023
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19. Rare Case of a Turner Syndrome Patient with Metastatic Dysgerminoma and No Y-Chromosomal Material with Pathogenic Variants Found in <italic>KIT</italic> and <italic>MTOR</italic>.
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Balle, Camilla Mains, Kassentoft, Christine Gaasdal, van Heusden, Jolinda Iris, Knudsen, Michael, Raaby, Line, and Gravholt, Claus Højbjerg
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The presence of Y-chromosomal material in females with Turner syndrome (TS) is a well-established risk factor for developing gonadoblastoma and malignant transformations thereof. However, these events are rarely seen in TS patients with no Y-chromosomal material. Thus, it is the current understanding that parts of the Y-chromosome are essential for the malignant transformation of gonadoblastoma in the dysgenetic gonad.Introduction: We report a case of a TS female with an apparent 46,X,idic(Xq) karyotype, who was diagnosed with a metastatic dysgerminoma. Whole exome sequencing of the tumor and blood, along with RNA sequencing of the tumor, was performed to comprehensively search for cryptic Y-chromosomal material and pathogenic variants.Methods: No Y-chromosomal material was detected in either tumor or blood. Whole exome-sequencing of DNA and RNA revealed a pathogenic somatic gain-of-function mutation inResults: KIT and a pathogenic missense mutation inMTOR . The patient underwent total hysterectomy with bilateral salpingo-oophorectomy, followed by adjuvant chemotherapy. Unfortunately, she died due to chemotherapy-induced pneumonitis 7 months after the initial diagnosis. Females with TS can develop metastatic dysgerminoma even in the absence of Y-chromosomal material. This questions the current understanding of Y-chromosomal material being essential for the malignant transformation of a gonadoblastoma in the dysgenetic gonad. [ABSTRACT FROM AUTHOR] more...Conclusion: - Published
- 2024
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20. Case Report: From epilepsy and uterus didelphys to Turner syndrome-associated dysgerminoma.
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Jinghua Li, Haipeng Zhu, Xuelian Ma, Jia Li, Jing Xue, and Limin Feng
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C-kit protein ,HORMONE therapy ,TURNER'S syndrome ,UTERUS ,Y chromosome ,VAGINA - Abstract
Dysgerminoma is a rare occurrence in Turner syndrome patients without Y chromosome mosaicism or hormone therapy during puberty. We present a unique case of a 33-year-old nulliparous Chinese woman with intermittent epilepsy and Mullerian anomalies carrying a double uterus, cervix, and vagina. The patient is also characterized as having Turner syndrome accompanied by 46,X, del(Xp22.33-11.23) and del(2)(q11.1-11.2). MRI exhibited a 17.0 cm× 20.0 cm× 10.5 cmsolid ovarian lesion. Radical surgery and pathology revealed dysgerminoma at stage IIIc with lymphatic metastases and a KIT gene mutation identified in exon 13. Furthermore, the tumor microenvironment (TME) displayed robust expression of CD4
+ T lymphocytes and PD-1, whereas the distribution of CD8+ T lymphocytes and PDL-1 was sporadic. Despite the administration of enoxaparin to prevent thromboembolism, the patient experienced multiple cerebral infarctions during chemotherapy. Subsequently, the patient chose to decline further treatment and was discharged. This exceptional case imparts several noteworthy lessons. First, the coexistence of Mullerian anomalies, although rare, is not incompatible with Turner syndrome. Second, screening for KIT mutations is imperative to reduce the risk of dysgerminoma in Turner syndrome, especially for patients with Y mosaicism who are recommended for hormone replacement therapy. Lastly, comprehensive anticoagulation therapy is crucial for Turner syndrome patients undergoing cisplatin-based chemotherapy. [ABSTRACT FROM AUTHOR] more...- Published
- 2024
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21. Seminoma and dysgerminoma: evidence for alignment of clinical trials and de-escalation of systemic chemotherapy.
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Wood, Georgina E., Bunting, Christopher P., Veli, Mesel, Arora, Rupali, Berney, Daniel M., Alifrangis, Constantine, MacDonald, Nicola D., Miller, Rowan E., Shamash, Jonathan, Stoneham, Sara, and Lockley, Michelle more...
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CANCER chemotherapy ,SEMINOMA ,CLINICAL trials ,GERM cells ,GENE expression ,CANCER cells - Abstract
Malignant germ cell tumours are a group of rare cancers whose incidence peaks in late adolescence and early adulthood. Dysgerminomas of the ovary and seminomas of the testis are analogous diseases, but seminomas have a 10-fold higher incidence. The two tumours are morphologically identical and are only differentiated by surrounding organ-specific tissue or testicular germ cell neoplasia in situ. They share genetic features including KIT and RAS mutations, amplification of chromosome 12p, and expression of pluripotency markers (NANOG (Nanog homeobox), OCT3/4 (Octamer-binding transcription factor 3/4), and SAL4 (Spalt-like trascription factor 4)). Both histologies are exquisitely sensitive to platinum chemotherapy, and the combination of bleomycin, etoposide, and cisplatin (BEP) yields survival rates greater than 90%. However, BEP causes significant, lifelong toxicity (cardiovascular, renal, respiratory, and neurological) in these young patients with an expectation of cure. Here, we comprehensively review the biological features of dysgerminoma and seminoma to demonstrate that they are biologically analogous diseases. We present available clinical trial data supporting de-escalation of chemotherapy treatment. Finally, we propose that future trials should enrol men, women, and children to benefit all patients regardless of age or sex. [ABSTRACT FROM AUTHOR] more...
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- 2023
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22. Germ Cell Tumors of the Ovary (and Maldeveloped Gonads)
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Watkins, Jaclyn C., Young, Robert H., Singh, Naveena, Series Editor, McCluggage, W. Glenn, Series Editor, and Wilkinson, Nafisa, editor
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- 2023
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23. Diagnosis and Management of Nonepithelial Ovarian Cancer
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Blake, Erin A., Guo, X. Mona, Guntupalli, Saketh R., Matsuo, Koji, and Shoupe, Donna, editor
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- 2023
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24. Germ Cell Tumors of the Ovaries
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Desouki, Mohamed Mokhtar, Fadare, Oluwole, and Shoupe, Donna, editor
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- 2023
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25. Malignant Ovarian Germ Cell Tumours
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Olaoye, Tejumola, Singh, Kavita, editor, and Gupta, Bindiya, editor
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- 2023
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26. Clinicopathological Study of Ovarian Germ Cell Tumours in Tertiary Care Hospital, Tamil Nadu, India: A Cross-sectional Study.
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LOKESHWARI, V., OSHIN, P. I., GOMATHI, M., and ESWARI, V.
- Abstract
Introduction: Ovarian germ cell tumours are a heterogeneous group of neoplasms derived from primitive germ cells of the embryonic gonad, either directly or indirectly. They can be classified as benign and malignant, with slow and rapid growth and spread, respectively. Benign ovarian germ cell tumours are common, while malignant tumours are rare and account for about 2.6% of all ovarian malignancies. They are more common in the second and third decades of life and typically present with abdominal mass, pain, and elevated serum tumour markers, which aid in primary diagnosis and follow-up. Aim: To analyse the distribution of germ cell tumours in the ovary in relation to age, parity, mode of presentation, biochemical markers, histomorphological patterns, and immunohistochemical markers. Materials and Methods: This cross-sectional study was conducted at Department of Pathology, Sree Balaji Medical College, Hospital and Research Institute, Chromepet, Chennai, Tamil Nadu, India. The study involved 86 ovarian specimens, of which 25 were germ cell tumours. Complete clinical history, radiological findings, and pre-operative laboratory test values were recorded. The ovarian specimens were carefully examined for gross appearances, fixed in 10% neutral buffered formalin for 24-48 hours, and subjected to histopathological processing, routine and special staining, and immunohistochemical study after observing the different morphological patterns of the ovarian specimens received. Results: The age range of presentation was between 14 years and 58 years. Seventeen patients were parous (14 benign and 3 malignant), and eight (5 benign and 3 malignant) were nulliparous. Abdominal mass and abdominal pain were the most common modes of presentation. Out of 25 germ cell tumours, 19 were benign cystic mature teratomas, 2 were immature teratomas, 1 was a yolk sac tumour, 2 were dysgerminomas, and 1 was a carcinoid tumour, with 6 being malignant and 19 being benign tumours. Among the 6 malignant ovarian tumours, 5 cases had raised serum tumour markers {cancer antigen-125 (CA-125), Alpha-Fetoprotein (AFP)} pre-operatively, and the levels reduced and became normal after surgery. Among the 2 cases of immature teratoma, one was Grade-II and the other was Grade-III. For one case with mixed tumour components, CD-30 and a-fetoprotein immunohistochemical markers were performed, showing negative and positive results, respectively. Conclusion: Among the histopathological subtypes, benign cystic teratomas were the most common ovarian germ cell tumours in this study. Both benign and malignant tumours presented with abdominal pain and abdominal mass. Most of the tumours were diagnosed between the ages of 21 and 40 years. In this study, a-fetoprotein immunohistochemical marker showed strong positivity, confirming a single tumour component. [ABSTRACT FROM AUTHOR] more...
- Published
- 2023
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27. Dysgerminoma of the Left Ovary in a Patient with Balanced Translocation 46X, t(X:1) (q22;q21): A Case Report
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Nagata K, Shimada T, Eishi C, Nishi M, Murakami T, Ohashi K, Kajimura I, and Miura K
- Subjects
primary amenorrhea ,balanced translocation ,dysgerminoma ,Medicine (General) ,R5-920 - Abstract
Koh Nagata, Takako Shimada, Chiaki Eishi, Masaki Nishi, Toru Murakami, Kazuaki Ohashi, Itsuki Kajimura, Kiyonori Miura Obstetrics and Gynecology, Nagasaki University Hospital, Nagasaki, JapanCorrespondence: Koh Nagata, Obstetrics and Gynecology, Nagasaki University Hospital, Nagasaki, Japan, Tel +81 95 819 7363, Fax +81 95 819 7365, Email k.nagata.nagasaki.obgyn@gmail.comAbstract: We report a case of dysgerminoma in a 22-year-old woman diagnosed with chromosomal abnormality, balanced translocation 46X,t(X:1)(q22;q21). She had received hormone replacement therapy for 7 years for primary amenorrhea. She visited a primary care physician because of lower abdominal distension, and a large tumor in the pelvis was discovered. She was admitted to our hospital for further examination of the pelvic tumor. She underwent laparotomy and was diagnosed with stage IIIA1 dysgerminoma (pT3apN0pM0) of the left ovary. Young female patients without the Y chromosome who are treated for primary amenorrhea may also develop malignant germ cell tumors; therefore, gynecologists should provide hormone replacement therapy and periodic pelvic evaluation.Keywords: primary amenorrhea, balanced translocation, dysgerminoma more...
- Published
- 2023
28. Yolk sac tumor and dysgerminoma in the left gonad following gonadoblastoma in the right gonad in a 46,XY DSD with a novel SRY missense mutation: a case report
- Author
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Chengxiu Xie, Jian Cai, Nan Li, Ping Hua, Zexuan Yang, Xia Yu, Dongmei Tang, Yu Hu, and Qingsong Liu
- Subjects
Disorders of sex development (DSD) ,Yolk sac tumor ,Dysgerminoma ,Gonadoblastoma (GB) ,Case report ,Gynecology and obstetrics ,RG1-991 - Abstract
Abstract Background Approximately 10–15% of 46,XY disorders of sex development (DSDs) have an SRY mutation residing in the high mobility group (HMG) domain. Here, we present a case of 46,XY DSD caused by a novel missense mutation in the HMG region of SRY rapidly progressing to germ cell tumors (GCTs). Case presentation An adolescent female (15 years old) exhibiting primary amenorrhea was later diagnosed as a 46,XY female with bilateral gonadal dysplasia on the basis of peripheral lymphocyte karyotype 46,XY and a novel missense mutation in SRY (c.281 T > G, p.L94R). The novel missense mutation (c.281 T > G, p.L94R) and its adjacent region were conserved. Protein structure analysis showed that the mutant site was located in the middle of the HMG domain, and the mutant protein had a diminished ability to bind to DNA. Imaging examination revealed an adolescent female with a naive uterus. Laparoscopy and initial pathological examination revealed left gonadal dysplasia and right gonadal dysplasia with gonadoblastoma (GB). Right gonadectomy by laparoscopy was performed upon consent from the patient’s parents. Less than 1 year postoperatively, the left gonadal gland deteriorated as observed by the findings of a mass in the left adnexal region by pelvic MRI and serum AFP > 1000 ng/ml by serological tests, and then total hysterectomy and adnexal and left gonadectomy by laparoscopy were performed. The GCT stage was classified as stage Ic according to FIGO. At this time, pathologic examination showed that the left gonad had progressed to yolk sac tumor and dysgerminoma. The patient underwent chemotherapy post-operatively but developed type III myelosuppression and tumor recurrence several months later. Conclusions The patient initially presented with right gonadoblastoma but chose only right gonadectomy by laparoscopy to preserve the female sex characteristics, which resulted in rapid deterioration of the left gonad and poor treatment outcomes. This case demonstrates the importance of early genetic diagnosis and treatment of 46,XY female DSD. more...
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- 2023
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29. Seminoma and dysgerminoma: evidence for alignment of clinical trials and de-escalation of systemic chemotherapy
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Georgina E. Wood, Christopher P. Bunting, Mesel Veli, Rupali Arora, Daniel M. Berney, Constantine Alifrangis, Nicola D. MacDonald, Rowan E. Miller, Jonathan Shamash, Sara Stoneham, and Michelle Lockley more...
- Subjects
systemic chemotherapy ,carboplatin ,germ cell tumours ,seminoma ,dysgerminoma ,de-escalating chemotherapy ,Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,RC254-282 - Abstract
Malignant germ cell tumours are a group of rare cancers whose incidence peaks in late adolescence and early adulthood. Dysgerminomas of the ovary and seminomas of the testis are analogous diseases, but seminomas have a 10-fold higher incidence. The two tumours are morphologically identical and are only differentiated by surrounding organ-specific tissue or testicular germ cell neoplasia in situ. They share genetic features including KIT and RAS mutations, amplification of chromosome 12p, and expression of pluripotency markers (NANOG (Nanog homeobox), OCT3/4 (Octamer-binding transcription factor 3/4), and SAL4 (Spalt-like trascription factor 4)). Both histologies are exquisitely sensitive to platinum chemotherapy, and the combination of bleomycin, etoposide, and cisplatin (BEP) yields survival rates greater than 90%. However, BEP causes significant, lifelong toxicity (cardiovascular, renal, respiratory, and neurological) in these young patients with an expectation of cure. Here, we comprehensively review the biological features of dysgerminoma and seminoma to demonstrate that they are biologically analogous diseases. We present available clinical trial data supporting de-escalation of chemotherapy treatment. Finally, we propose that future trials should enrol men, women, and children to benefit all patients regardless of age or sex. more...
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- 2023
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30. Ovary
- Author
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Prichard, Jeffrey W., Lin, Fan, editor, Prichard, Jeffrey W., editor, Liu, Haiyan, editor, and Wilkerson, Myra L., editor
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- 2022
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31. Giant ovarian dysgerminoma in an adolescent
- Author
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Shujie Liu and Haiyan Zhang
- Subjects
Dysgerminoma ,Ovarian tumor ,Pelvic mass ,Surgery ,RD1-811 - Published
- 2023
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32. Delayed Diagnosis of Swyer Syndrome with Mixed Germ Cell Tumour: "A Stitch in Time Saves Nine" Always Holds True
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Baruah, Upasana, Gupta, Sakshi, Barmon, Debabrata, Begum, Dimpy, and Bassetty, Karthik Chandra
- Published
- 2024
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33. A Rare Case of Malignant Ovarian Germ Cell Tumor: Dysgerminoma and Seminoma in the Same Patient.
- Author
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Mitranovici, Melinda-Ildiko, Chiorean, Diana Maria, Turdean, Sabin Gligore, Mureșan, Maria Cezara, Buicu, Corneliu-Florin, Moraru, Raluca, Moraru, Liviu, Cotoi, Titiana Cornelia, Toru, Havva Serap, Apostol, Adrian, Mărginean, Claudiu, Petre, Ion, Oală, Ioan Emilian, Ivan, Viviana, and Cotoi, Ovidiu Simion more...
- Subjects
- *
SEMINOMA , *GERM cell tumors , *OVUM donation , *EMBRYO transfer , *YOUNG adults , *INTERSEXUALITY , *LAPAROSCOPIC surgery - Abstract
Ovarian malignant germ cell tumors (OMGCTs) represent a rare type of malignant tumors composed of primitive germ cells that often originate from dysgenetic gonads and are frequently associated with hermaphroditism. Such tumors occur more frequently in adolescents or young adults, and their etiopathogenic mechanism is not well established. We report the case of a 20-year-old female with ovarian dysgenesis and female phenotype. A laparoscopic surgery was performed, and ovotestis was discovered. To achieve a histopathological examination, right oophorectomy was performed, which confirmed the diagnosis of dysgerminoma. In the case of hermaphroditism, mixed germ cell tumors can develop, leading to a more aggressive evolution with bilateral malignancy of the gonads, which requires the removal of both ovotestis. The patient was recalled. A histopathological examination revealed a seminoma, so laparoscopic left oophorectomy was performed. The management of this type of diagnosis primarily involves surgery, minimally invasive interventions being preferred. Not all pathologic conditions are readily identifiable by means of exploratory laparoscopy, as in our patient's case. We consider that the optimal solution for these patients would be the preservation of fertility via egg donation and embryo transfer; the survival rate of such patients being 97–100%, if the tumor is diagnosed at an early age. [ABSTRACT FROM AUTHOR] more...
- Published
- 2023
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34. 儿童卵巢无性细胞瘤-例并文献复习.
- Author
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李瑜, 杨敏, and 高成英
- Abstract
Children ovarian dysgerminoma is uncommon in clinic practice. Combined with the history and the auxiliary examination, surgery in children ovarian dysgerminoma is the preferred approach. With the development and progress of the comprehensive treatment model, we need to consider the protection of children's fertility and the management of ovarian malignant tumor after surgical treatment. Here we report the data of a 12-year-old child with ovarian dysgerminoma. The patient first seen in the department of pediatrics due to abdominal pain, and then went to the department of gynecology after finding pelvic mass. Anal examination indicated that a mass of about 7.0 cm×6.0 cm, quality medium, border clear and movable could be palpated on the right side of the pelvic cavity. The examination of relevant tumor markers showed that alpha-fetoprotein and carbohydrate antigen 125 increased slightly. Laparotomy and intraoperative freezing suggested that benign lesions were considered in the left ovary and malignant lesions in the right ovary, so right adnexectomy +excision of left ovarian cyst was performed. Adjuvant chemotherapy and goserelin castration were given to protect ovarian function after surgery. The patient has been followed up for 11 months and has regular menstruation without special discomfort. The diagnosis and treatment process and characteristics of ovarian dysgerminoma in children were reviewed in order to improve clinicians'consideration of the diagnosis, treatment and management of this disease. [ABSTRACT FROM AUTHOR] more...
- Published
- 2023
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35. Bilateral Ovarian Germ Cell Tumor in a 46,XX Female with Nijmegen Breakage Syndrome and Hypergonadotropic Hypogonadism
- Author
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Malgorzata A. Krawczyk, Malgorzata Styczewska, Dorota Birkholz-Walerzak, Mariola Iliszko, Beata S. Lipska-Zietkiewicz, Wojciech Kosiak, Ninela Irga-Jaworska, Ewa Izycka-Swieszewska, and Ewa Bien
- Subjects
pure gonadal dysgenesis ,solid tumor ,gonadoblastoma ,dysgerminoma ,children ,cancer predisposition ,Pediatrics ,RJ1-570 ,Diseases of the endocrine glands. Clinical endocrinology ,RC648-665 - Abstract
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disease, affecting mainly patients of Slavic origin. It is caused by a defect in the NBN gene, resulting in defective nibrin protein formation. This leads to chromosomal instability, which predisposes to cancer, with lymphoid malignancies predominating. Nibrin is also involved in gonadal development and its disfunction in females with NBS frequently results in a pure gonadal dysgenesis (PGD) causing hypergonadotropic hypogonadism. However, only a few ovarian tumors in NBS patients have been reported to date. We describe the first case of a girl with NBS with PGD, who developed metachronous bilateral ovarian germ cell tumors (dysgerminoma and gonadoblastoma). Pathogenesis of PGD, neoplastic transformation and therapeutic approach in females with NBS are discussed. more...
- Published
- 2022
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36. A case of malignant dysgerminoma in cattle: A case report
- Author
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Sravya, M., Nasreen, A., Sailaja, N., and Vijayalakshmi, S.
- Published
- 2023
- Full Text
- View/download PDF
37. Yolk sac tumor and dysgerminoma in the left gonad following gonadoblastoma in the right gonad in a 46,XY DSD with a novel SRY missense mutation: a case report.
- Author
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Xie, Chengxiu, Cai, Jian, Li, Nan, Hua, Ping, Yang, Zexuan, Yu, Xia, Tang, Dongmei, Hu, Yu, and Liu, Qingsong
- Subjects
GONADAL dysgenesis ,MISSENSE mutation ,GONADS ,PELVIS ,SEX differentiation disorders ,GERM cell tumors - Abstract
Background: Approximately 10–15% of 46,XY disorders of sex development (DSDs) have an SRY mutation residing in the high mobility group (HMG) domain. Here, we present a case of 46,XY DSD caused by a novel missense mutation in the HMG region of SRY rapidly progressing to germ cell tumors (GCTs). Case presentation: An adolescent female (15 years old) exhibiting primary amenorrhea was later diagnosed as a 46,XY female with bilateral gonadal dysplasia on the basis of peripheral lymphocyte karyotype 46,XY and a novel missense mutation in SRY (c.281 T > G, p.L94R). The novel missense mutation (c.281 T > G, p.L94R) and its adjacent region were conserved. Protein structure analysis showed that the mutant site was located in the middle of the HMG domain, and the mutant protein had a diminished ability to bind to DNA. Imaging examination revealed an adolescent female with a naive uterus. Laparoscopy and initial pathological examination revealed left gonadal dysplasia and right gonadal dysplasia with gonadoblastoma (GB). Right gonadectomy by laparoscopy was performed upon consent from the patient's parents. Less than 1 year postoperatively, the left gonadal gland deteriorated as observed by the findings of a mass in the left adnexal region by pelvic MRI and serum AFP > 1000 ng/ml by serological tests, and then total hysterectomy and adnexal and left gonadectomy by laparoscopy were performed. The GCT stage was classified as stage Ic according to FIGO. At this time, pathologic examination showed that the left gonad had progressed to yolk sac tumor and dysgerminoma. The patient underwent chemotherapy post-operatively but developed type III myelosuppression and tumor recurrence several months later. Conclusions: The patient initially presented with right gonadoblastoma but chose only right gonadectomy by laparoscopy to preserve the female sex characteristics, which resulted in rapid deterioration of the left gonad and poor treatment outcomes. This case demonstrates the importance of early genetic diagnosis and treatment of 46,XY female DSD. [ABSTRACT FROM AUTHOR] more...
- Published
- 2023
- Full Text
- View/download PDF
38. Diagnosis and Management of Dysgerminomas with a Brief Summary of Primitive Germ Cell Tumors.
- Author
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Mitranovici, Melinda-Ildiko, Chiorean, Diana Maria, Mureșan, Maria Cezara, Buicu, Corneliu-Florin, Moraru, Raluca, Moraru, Liviu, Cotoi, Titiana Cornelia, Cotoi, Ovidiu Simion, Toru, Havva Serap, Apostol, Adrian, Turdean, Sabin Gligore, Mărginean, Claudiu, Petre, Ion, Oală, Ioan Emilian, Simon-Szabo, Zsuzsanna, Ivan, Viviana, and Pușcașiu, Lucian more...
- Subjects
- *
HEALTH facilities , *NEUROECTODERMAL tumors , *PEDIATRIC surgeons , *GERM cell tumors , *DIAGNOSIS , *FERTILITY preservation , *CANCER cells - Abstract
Dysgerminoma represents a rare malignant tumor composed of germ cells, originally from the embryonic gonads. Regarding its incidence, we do not have precise data due to its rarity. Dysgerminoma occurs at a fertile age. The preferred treatment is the surgical removal of the tumor succeeded by the preservation of fertility. Even if a multidisciplinary team, founded in 2009 by a gynecologist, an oncologist, a pediatric oncologist and a pediatric surgeon, under the guidance of the Malignant Germ Cell International Consortium (MaGIC), studies this type of tumor, issues still remain related to the lack of a randomized study and to both the management and understanding of the concept of OMGCTs (ovarian malignant germ cell tumors). The aim of this review is to present from the literature the various approaches for this type of tumor, and, regarding innovative therapies or possible prevention, which can be applied in clinical practice. Multidisciplinarity and treatment in reference centers have proven their usefulness as well. [ABSTRACT FROM AUTHOR] more...
- Published
- 2022
- Full Text
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39. Fine Needle Aspiration Cytology of the Gonads
- Author
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Dey, Pranab and Dey, Pranab
- Published
- 2021
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40. Spectrum of Cisplatin-Induced Cardiotoxicity in Dysgerminomas: Case Series and Review
- Author
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Kapoor, Mayank, Sehrawat, Amit, Rajaram, Shalini, and Sundriyal, Deepak
- Published
- 2024
- Full Text
- View/download PDF
41. Gonadal Tumors in Individuals with Turner Syndrome and Y-Chromosome Mosaicism: A Retrospective Multisite Study.
- Author
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Dowlut-McElroy T, Long JR, Mayhew AC, Lawson A, Fei YF, Smith AK, Shankar RK, and Gomez-Lobo V
- Abstract
Study Objective: To evaluate the prevalence of germ cell tumors and the clinical monitoring practices for those who deferred prophylactic gonadectomy in a large North American cohort of individuals with Turner syndrome with Y-chromosome mosaicism (TS+Y)., Method: A query of the medical records at multiple North American children's hospitals was done using ICD codes related to Turner Syndrome. A retrospective chart review was conducted on those patients between ages 0 to 30 years with Y-mosaicism., Results: The data of 57 participants were analyzed. Eight (25.8%, n = 31) ≥ 13 years underwent spontaneous thelarche. One (3.2%) had spontaneous menarche. Forty-seven (82.5%) had gonadectomy at a median age of 8 years (IQR 11.0, range <1 to 19 years). Sixteen (34%) had growth hormone therapy exposure prior to gonadectomy. Fourteen (29.8%) had gonadoblastoma. Two (4.3%) had dysgerminoma. Differences in age at gonadectomy, presence of the entire Y-chromosome, and exposure to growth hormone when comparing those with vs without gonadal tumor were not statistically significant. Gonadectomy had not been performed in 10 individuals, median age 6.5 (IQR 9.0, range <1 to 14 years). There was no consistency in the plan for ultrasound and/or tumor markers for follow-up., Conclusions: Our data shows a prevalence of 24.6% of gonadal tumors in individuals with TS +Y and a relatively low risk of malignant transformation (3.5%). Prior exposure to growth hormone was not predictive of the presence of gonadal tumor. Future cytogenetic studies are needed to better understand the factors involved in the development of gonadal tumors., Competing Interests: Conflicts of Interest Author 7 received research funding from BioMarin, an investigator initiated clinical trial of Vosoritide in Turner Syndrome paid to Children's National Hospital. All other authors have no conflict of interests to declare., (Copyright © 2024. Published by Elsevier Inc.) more...
- Published
- 2024
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42. Ovarian gonadoblastoma with dysgerminoma in a girl with 46,XX karyotype 17a-hydroxylase/17, 20-lyase deficiency: A case report and literature review
- Author
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Min Yin, Jiaxin Yang, Qinjie Tian, and Xinyue Zhang
- Subjects
congenital adrenal hyperplasia ,CYP17A1 gene ,ovarian gonadoblastoma ,dysgerminoma ,17α-hydroxylase/17,20-lyase deficiency ,Diseases of the endocrine glands. Clinical endocrinology ,RC648-665 - Abstract
17α−hydroxylase/17,20−lyase deficiency (17-OHD), caused by mutations in the gene of the cytochrome P450 family 17 subfamily A member 1 (CYP17A1), is a rare type of congenital adrenal hyperplasia (CAH), usually characterized by cortisol and sex steroid deficiency combined with excessive mineralocorticoid. Gonadoblastoma is a relatively rare ovarian tumor that is frequently seen among patients with 46,XY gonadal dysgenesis. Rarely have they been reported in female patients with normal 46,XX karyotype. Here, we report an interesting case of an 11-year-old Chinese girl who presented acute abdominal pain that was later attributed to tumor rupture of right ovarian gonadoblastoma with dysgerminoma. Further evaluations revealed hypertension and hypokalemia. Hormonal findings showed increased progesterone, hypergonadotropic hypogonadism, and low cortisol levels. Her chromosome karyotype was 46,XX without Y chromosome material detected. Genetic analysis revealed that the patient had a homozygous pathogenic variant c.985_987delTACinsAA (p.Y329Kfs*90) in exon 6 of the CYP17A1 gene and that her parents were all heterozygous carriers of this pathogenic variant. Due to the variable clinical manifestations of 17-OHD, meticulous assessment including genetic analysis is necessary. Further study is warranted to unravel the mechanism of gonadoblastoma in a patient with normal karyotypes. more...
- Published
- 2022
- Full Text
- View/download PDF
43. Paediatric Ovarian Dysgerminoma: A Case Report
- Author
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Siddhant Adhikari, Santosh Joti, and Parvat Kuwar Chhetri
- Subjects
case reports ,dysgerminoma ,metastasis ,paediatrics. ,Medicine (General) ,R5-920 - Abstract
Dysgerminoma is the most common malignant germ cell tumour of the ovary. Abdominal pain, abdominal distention, and the presence of a palpable mass are common symptoms at presentation. This is usually detected in youth, before the age of 20 years. Ovarian or adnexal tumours are very rare in patients below the age of 18 years, most of them being functional cysts, only 10% being malignant. Here is a rare case of an 8 years old girl with dysgerminoma who underwent right-sided salpingo-oophorectomy for unilateral involvement with conservation of fertility and now the patient is on chemotherapy as the tumour metastasized to the pre-aortic lymph node. more...
- Published
- 2022
- Full Text
- View/download PDF
44. Dysfunctional labor and hemoperitoneum secondary to an incidentally discovered dysgerminoma: a case report
- Author
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Aneesa Thannickal, Brandon Maddy, Marla DeWitt, William Cliby, and Margaret Dow
- Subjects
Dysgerminoma ,Pregnancy ,Protracted labor ,Hemoperitoneum ,Oophorectomy ,Staging ,Gynecology and obstetrics ,RG1-991 - Abstract
Abstract Background Ovarian dysgerminoma, a subtype of malignant germ cell tumor (GCT), is a rare ovarian neoplasm that is infrequently found in the gravid patient. When dysgerminomas do occur in pregnancy, the rapidly growing tumors can have a heterogeneous presentation and lead to peripartum complications and morbidity. Due to the rarity of this condition, diagnostic and therapeutic strategies are not well described in the literature. Case presentation A healthy multigravida with an uncomplicated antenatal history presented for elective induction of labor. She had a protracted labor course, persistently abnormal cervical examinations, and eventually developed a worsening Category II tracing that prompted cesarean birth. Intraoperatively, a 26 cm pelvic mass later identified as a Stage IA dysgerminoma was discovered along with a massive hemoperitoneum. The mass was successfully resected, and the patient remains without recurrence 6 months postoperatively. Conclusion Although rare and generally indolent, dysgerminomas can grow rapidly and cause mechanical obstruction of labor and other complications in pregnancy. Pelvic masses, including malignant neoplasms, should be included in as part of a broad differential diagnosis when evaluating even routine intrapartum complications such as abnormal labor progression. Additionally, we demonstrate that adnexal masses can be a source of life-threatening intraabdominal hemorrhage. more...
- Published
- 2021
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45. Çocukluk çağı disgerminom tedavi sonuçları
- Author
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Buket Kara, Hilal Akbaş, İlhan Çiftçi, and Yavuz Köksal
- Subjects
children ,ovary ,dysgerminoma ,çocuk ,over ,disgerminom ,Medicine (General) ,R5-920 - Abstract
Amaç: Over disgerminomu tanısı ile izlenen hastaların demografik ve klinik özellikleri ile tedavi yaklaşımlarını geriye dönük olarak incelemektir. Gereç ve Yöntem: XXXXXX Üniversitesi Tıp Fakültesi Çocuk Onkoloji Bilim Dalı’nda, 2006-2020 yılları arasında over disgerminom tanısı alan çocuk hastaların dosyaları geriye dönük olarak incelendi. Sonuç: On disgerminom tanısı alan hasta çalışmaya dâhil edildi. Hastaların yaşları 8 ile 17 yıl arasında değişmekteydi (ortanca, 12,5 yıl). Dokuz hastada kitle tek taraflı iken (%90), bir hastada iki taraflıydı (%10). Tüm hastalarda, başvuru şikâyetleri karında şişlik ve karın ağrısı idi. Bir hastada over torsiyonu gelişmişti. Yedi hastada ameliyat öncesi alfa föto protein düzeyleri normal sınırlarda iken, hCG düzeyleri yedi hastanın tamamında yüksekti. Laktat dehidrojenaz enzim düzeyi beş hastada bakılmıştı ve hepsinde yüksekti. Beş hasta primer cerrahi uygulandı ve bu hastaların tamamı evre I’di ek tedavi verilmedi. Üç hastada, bilateral hastalık ya da yaygın hastalık nedeniyle neoadjuan tedavi olarak uygulandı. Hastaların izlem süreleri bir yıl ile 13 yıl arasında değişmekteydi (ortanca, 5,5 yıl). Hastaların genel yaşam oranı % 87,5 idi. Yorum: Özellikle ergenlik çağına yakın kız hastalarda hızlı büyüyen karın içi kitlelerde disgerminom akla gelmeli ve tedavi planlaması buna göre yapılmalıdır. more...
- Published
- 2021
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46. 女性性反转综合征合并性腺母细胞瘤及无性细胞瘤一例.
- Author
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王敏, 马帅, 李丹, 郑连文, and 刘巍
- Abstract
Sexual reversal syndrome is a kind of hereditary disease whose chromosome sex is not consistent with gonad sex. The incidence is very low, and pathogenesis is unknown. The related clinical manifestations are different. This paper report a patient with 46, XY chromosome karyotype, but her gender, internal and external genitalia are female, and the right ovary is accompanied by gonadoblastoma and dysgerminoma, in order to provide some new clinical ideas for the diagnosis, treatment and research of sex reversal syndrome. [ABSTRACT FROM AUTHOR] more...
- Published
- 2023
- Full Text
- View/download PDF
47. Changes in Brain Function in Patients With Stage I, Stage II, Stage III, or Stage IV Ovarian, Primary Peritoneal, or Fallopian Tube Cancer Who Are Receiving Chemotherapy
- Author
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National Cancer Institute (NCI)
- Published
- 2018
48. A Pelvic Swelling in an Adult Female
- Author
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Dey, Pranab and Dey, Pranab
- Published
- 2020
- Full Text
- View/download PDF
49. Dysgerminoma in a 15 years old phenotypically female Swyer syndrome with 46, XY pure gonadal dysgenesis: A case report.
- Author
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Ashraf Ganjooei, Tahereh, Pirastehfar, Zanbagh, Mosallanejad, Asieh, Raoufi, Masoomeh, Afshar Moghaddam, Noushin, and Hashemieh, Mozhgan
- Subjects
- *
GONADAL dysgenesis , *SYNDROMES , *AMENORRHEA , *KARYOTYPES , *FEMALES - Abstract
Swyer syndrome is a 46, XY karyotype, with pure gonadal dysgenesis and primary amenorrhea. These females have primordial Mullerian structures and seek medical attention as they experience primary amenorrhea. Here, we report a 15‐year‐old girl, diagnosed as Swyer syndrome associated with left ovarian dysgerminoma. Primary amenorrhea as one of the outcomes of Swyer syndrome caused by chromosomal abnormalities can be a warning sign for gonadal malignancies. [ABSTRACT FROM AUTHOR] more...
- Published
- 2022
- Full Text
- View/download PDF
50. Bilateral Ovarian Germ Cell Tumor in a 46,XX Female with Nijmegen Breakage Syndrome and Hypergonadotropic Hypogonadism.
- Author
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Krawczyk, Malgorzata A., Styczewska, Malgorzata, Birkholz-Walerzak, Dorota, Iliszko, Mariola, Lipska-Zietkiewicz, Beata S., Kosiak, Wojciech, Irga-Jaworska, Ninela, Izycka-Swieszewska, Ewa, and Bien, Ewa more...
- Subjects
GERMINOMA ,GERM cell tumors ,HYPOGONADISM ,OVARIAN tumors ,NIJMEGEN breakage syndrome ,TREATMENT effectiveness ,IMMUNOPHENOTYPING - Abstract
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disease, affecting mainly patients of Slavic origin. It is caused by a defect in the NBN gene, resulting in defective nibrin protein formation. This leads to chromosomal instability, which predisposes to cancer, with lymphoid malignancies predominating. Nibrin is also involved in gonadal development and its disfunction in females with NBS frequently results in a pure gonadal dysgenesis (PGD) causing hypergonadotropic hypogonadism. However, only a few ovarian tumors in NBS patients have been reported to date. We describe the first case of a girl with NBS with PGD, who developed metachronous bilateral ovarian germ cell tumors (dysgerminoma and gonadoblastoma). Pathogenesis of PGD, neoplastic transformation and therapeutic approach in females with NBS are discussed. [ABSTRACT FROM AUTHOR] more...
- Published
- 2022
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