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Gonadotropin-releasing hormone (GnRH(-independent premature puberty in boys, characterized by elevated β-human chorionic gonadotropin (β-hCG) levels, can indicate a secreting germ cell tumor (GCT). These tumors are rare but more common in individuals with Klinefelter syndrome (KS). We present a case of a 7.3-year-old boy with precocious puberty. Physical examination revealed bilateral testicular volumes of 8 to 10 mL and Tanner stage 3 secondary sexual characteristics (genitalia G3, pubic hair P3). His skeletal age was 12 years. Biochemical tests showed suppressed gonadotropin levels, elevated testosterone, and increased β-hCG of 86.6 mIU/mL (86.6 IU/L, reference range: <5 mIU/mL, <5 IU/L). Imaging, including magnetic resonance imaging (MRI), chest x-ray, whole-body computed tomography (CT), and testicular ultrasound, were interpreted as normal except for a small pineal cyst. Karyotype testing confirmed KS. Over 10 months, β-hCG levels fluctuated between 1 to 105 mIU/mL (1-105 IU/L). When β-hCG was 3.6 mIU/mL (3.6 IU/L), a fluorodeoxyglucose positron emission tomography–CT (FDG PET-CT) scan revealed a mediastinal tumor. The tumor was surgically removed and identified as a mature teratoma. This case underscores the importance of karyotype testing and repeated imaging in boys with premature puberty and elevated β-hCG levels, even if β-hCG levels decrease spontaneously and remain low. [ABSTRACT FROM AUTHOR]

Introduction: The optimal management of relapsed/refractory germ cell tumors remains unsettled. In this study, we aimed to evaluate the efficacy of high-dose chemotherapy (HDCT) and autologous stem cell transplantation (ASCT) as salvage therapy in patients who progressed after at least one line of cisplatin-based chemotherapy. Methods: We retrospectively reported the results of 133 patients who underwent HDCT and ASCT as salvage therapy from 2016 to 2021. Patients received 3 cycles of paclitaxel, ifosfomide and cisplatin (TIP) regimen as induction and 1 cycle of carboplatin 700 mg/m2 on days 1–3 plus etoposide 750 mg/m2 on days 1–3, followed by ASCT. Demographic and clinicopathological features of patients, the International Germ Cell Cancer Collaborative Group (IGCCCG) risk group at diagnosis, serum alpha-fetoprotein (AFP) and beta-human chorionic gonadotropin (HCG) levels before HDCT, treatment-related complications and survival outcomes were recorded. Results: The median age of the patients was 31 (range 18–62). The median follow-up was 31.1 months (95% CI, 28.9–33.3 months). During the median follow-up period, 74 of the 133 patients were still alive, and 63 of these were in complete remission. The median progression-free survival (PFS) was 25.8 months (95% CI, 8.1–43.4 months). The 2-year PFS rate was 50.3% and the 2-year overall survival (OS) rate was 60.8%. Variables that remained statistically significant in multivariable analysis and were associated with poor prognosis were mediastinal primary tumor location, presence of brain metastases, and higher AFP and HCG levels at baseline. Conclusion: One course of HDCT and ASCT after induction with TIP is an effective and feasible treatment option for salvage treatment of relapsed/refractory germ cell tumors, with cure rates of up to 60%. [ABSTRACT FROM AUTHOR]

Key Clinical Message: The key takeaway from this clinical scenario is to choose the most appropriate and reasonable treatment plan when dealing with a patient who has atrial septal defect (ASD) and concurrent atrial and mediastinal masses. In such cases, a heart‐oncology team should make the therapeutic decision. Right atrial masses are not pretty rare and might be a diagnostic challenge. Thrombosis, tumors, and vegetations are primary differential diagnoses. Workup for these masses usually includes multimodality imaging and biopsy in selected cases. We report a case of a 37‐year‐old lady who presented with cough, dyspnea, and head and neck swelling after a cesarean section. Echocardiography revealed a right atrial mass accompanied by a secundum type atrial septal defect (ASD). Pulmonary CT Angiography was performed, in which a lobulated mass in the anterior mediastinum was detected, and a heart‐oncology team made the therapeutic decision. The patient was scheduled for surgical ASD closure and concomitant tissue biopsy. The pathology results were in favor of poorly differentiated germ cell tumors, and chemotherapy was started following the surgery. After two sessions of chemotherapy, the tumor did not respond to the primary regimen. Thus, an updated regimen was initiated. Compliance with the updated regimen was acceptable, and the patient is currently under treatment and follow‐up. [ABSTRACT FROM AUTHOR]

Introduction: Since the first report, primary mediastinal seminoma has a low incidence in the population, and it mainly affects young and middle-aged men, is clinically rare, and accounts for a very small proportion of mediastinal tumors. In this study, we describe the first case of primary mediastinal seminoma with azoospermia and hypothesize that the coexistence of the two disorders may not be a coincidence. Case report: A 16-year-old man presented with chest tightness and chest pain, a mediastinal mass on chest CT, and abnormal 18F-fluoro-deoxyglucose uptake on a PET-CT scan. By biopsy of the mass, the pathological diagnosis was a primary mediastinal seminoma. Because chemotherapy is included in the treatment of the tumor, the patient underwent sperm freezing before treatment, considering that chemotherapy can affect fertility, but the patient was diagnosed with azoospermia. Finally, the patient underwent tumor resection and postoperative chemotherapy. No tumor recurrence was observed at the current follow-up. Conclusion: Primary mediastinal seminoma is mainly confirmed by histopathological examination, and surgery and chemoradiotherapy are the current treatments. In patients with mediastinal seminoma or azoospermia, doctors should be aware that the two disorders may coexist, especially in men who have fertility requirements or long-term infertility, and that examination of the mediastinum and semen may lead to unexpected findings in the diagnosis and treatment. For mediastinal germ cell tumors, genetic testing is of great value in the treatment of tumors and the prediction of associated diseases. Future studies exploring the potential correlation between mediastinal seminoma and azoospermia will be prospective. [ABSTRACT FROM AUTHOR]

Background: Benign mature teratomas are the most common type of anterior mediastinal germ cell tumor. Mature intrapericardial teratomas are generally diagnosed during infancy because of symptoms of cardiac compression. In contrast, mature adult intrapericardial teratomas are extremely rare, accounting for less than 1% of mature intrapericardial teratomas. We describe herein a case of a mature intrapericardial teratoma in an asymptomatic adult. Case presentation: A 52-year-old woman was found by computed tomography during a health checkup to have an anterior mediastinal mass. She was asymptomatic and hemodynamically stable with no evidence of heart failure. The preoperative provisional radiological diagnosis was a mature intrapericardial teratoma. A median sternotomy revealed an approximately 5-cm diameter protruding intrapericardial mass with a smooth surface. The mass was completely resected. Histopathological examination resulted in a diagnosis of a mature intrapericardial teratoma. The patient did well and has no evidence of recurrence 5 years after surgery. Conclusions: Mature intrapericardial teratomas in adults are extremely rare. Given the risks of malignant transformation, rupture, compression of the heart, and infection, excision is indicated to prevent development of serious manifestations. [ABSTRACT FROM AUTHOR]

Background: Mediastinal teratoma is an uncommon disease, nevertheless they represent the most common mediastinal germ cell tumors. It may grow silently for several years and remain undiagnosed until the occurrence of a complication. Aim: The main aim of this article is to illustrate the silent evolution of an anterior mediastinal teratoma for over 70 years without presenting any notable complications. Case presentation: We present the case of a 70-year-old female, treated for hypertension referred to our department for managing a voluminous mediastinal mass, discovered fortuitously by a general practitioner in a chest X-ray. The anamnesis didn't relate any chest pain, cough, dyspnea nor hemoptysis. The clinical examination, in particular pleuropulmonary, was unremarkable. The workup (Chest X-Ray and CT scan) demonstrated a voluminous pleural mass at the expense of the right mediastinal pleura, rounded in shape, with calcified wall and fluid content. Blood tests did not demonstrate eosinophilia, and hydatid IgG serology was negative. serum human chorionic gonadotropin (hCG) and alpha fetoprotein (AFP) levels were found to be normal. The patient subsequently underwent a right posterolateral thoracotomy with resection of the lesion. The mass was dissected very carefully and then resected in toto. The macroscopic and microscopic histological examination demonstrated a mature cystic teratoma. Surgical resection was an adequate treatment and the prognosis was excellent for the patient. Conclusion: Cystic mature teratomas are rare thoracic tumors, often recognized by radiological examination. This article relates the silent evolution that a teratoma could have, and the late appearance of symptoms that it could have. [ABSTRACT FROM AUTHOR]

Introduction: Mediastinal tumors, particularly non-neuroendocrine thymic epithelial tumors (TET) are relatively uncommon, posing challenges for extensive epidemiological studies. This study presents a comprehensive analysis of these tumors in the United States (US) and Germany (GER) from 1999 to 2019. Methods: Patients aged 0-19 (n=478) and =20 years (n=17,459) diagnosed with malignant tumors of the anterior mediastinum were identified from the Surveillance, Epidemiology, and End Results registry (SEER) and the Zentrum für Krebsregisterdaten (ZfKD) databases. Results: Among patients aged =20 years, TETs accounted for the most prevalent anterior mediastinal tumors (US/GER: 63%/64%), followed by lymphomas (14%/8%). For patients <20 years, predominant tumors included germ cell tumors (42%/14%), lymphomas (38%/53%), and TETs (10%/27%). The overall annual incidence of thymoma was 2.2/2.64 (US/GER) per million inhabitants and for thymic carcinomas 0.48/0.42. The male-to-female ratio was 1:1.09/1.03, and the mean age 59.48 ± 14.89/61.33 ± 13.94. Individuals with thymomas, but not thymic carcinomas, exhibited a 21%/29% significantly heightened risk of developing secondary malignancies compared to controls with non-thymic primary tumors. Discussion: This study provides a comparative analysis of anterior mediastinal tumors, particularly TETs, in the US and GER over the past two decades. Furthermore, it highlights a significantly elevated incidence of secondary malignancies in thymoma patients. [ABSTRACT FROM AUTHOR]

Background: The aim of this study was to review clinical features of adolescent malignant germ cell tumors (MGCTs) in Beijing and analyze the peculiar characteristics of this age group. Methods: Clinical characteristics, pathological presentations, and survival outcomes of 34 patients were analyzed retrospectively. Results: Of 34 patients, 12 girls and 22 boys, 18 (52.9%) had an extra‐cranial tumor, including one testicular tumor, five ovarian tumors, one sacrococcygeal tumor, and 11 mediastinal tumors. Histologically, we found immature teratomas (n = 6), yolk sac tumors (n = 5), mixed malignant tumors (n = 5), an embryonic carcinoma (n = 1), and seminoma (n = 1). Three‐year event‐free survival (EFS) and overall survival (OS) were 48.8% and 62.9%, respectively. Another 16 (47.1%) patients had an intracranial tumor, including nine in the pineal region, five in the suprasellar region, one in basal ganglia, and one in cerebellopontine. All patients had localized disease and an excellent outcome with 3‐year EFS and OS of 93.7% and 100%, respectively. Conclusions: Adolescent MGCTs are rare with a strong dependence on gender, and the mediastina and pineal region are the most common tumor locations. The prognosis is promising compared with that of other adolescent tumors and MGCTs in other age groups. MGCTs in mediastina have a tendency to companion with other hematological malignancies, and the prognosis is extremely poor in these patients. [ABSTRACT FROM AUTHOR]

Introduction: germ cell tumors account for only 1% to 4% of all tumors found in the mediastinum and can be benign or malignant, with seminoma being a malignant tumor of the mediastinum Aim: we presented a case of primary mediastinal seminoma in a 28-yearold man admitted to the Clinic of Lung Diseases and Tuberculosis of the Clinical Centre University of Sarajevo due to a CT-verified mass in the anterior mediastinum. Case report: apart from a dry cough that lasted for a month, the patient did not report any other symptoms. Chest CT scan revealed an expansive mass in the upper, middle, anterior, mediastinum, located retrosternal and left parasternal, which compressed the large blood vessels to the right. No significant lymphadenopathy was seen. CT-guided needle biopsy of the mediastinal mass was performed. Pathohistological finding confirmed that it was a tumor of germ cells-seminoma. An ultrasound of the abdomen, pelvis and scrotum was also performed. Both testicles with homogeneous parenchymal structure without clearly isolated focal lesions. The left ductus epididymis in the area of the head had cysts up to 6 mm, the same was of borderline size. Chemotherapy based on platinum, etoposide and bleomycin was started. Results: after four cycles of chemotherapy chest CT scan was performed and compared with the previous one showing a significant regression in size and the remaining part of the tumor mass was mostly calcified. Then a resection of the right upper lobe and the anonymous vein was performed. Pathohistological findings without signs of tumor with extensive necrosis and three interlobar lymph nodes without tumor. Given the complete response, only further follow -up was determined. Conclusion: each tumor mass verified in the mediastinum requires a detailed evaluation, especially because tumors of the mediastinum are most often of metastatic origin. Diagnosis of primary mediastinal seminoma established in time ensures long-term survival of the patient. [ABSTRACT FROM AUTHOR]

We present a rare case of a 42-year-old man diagnosed with a placental site trophoblastic tumor in combination with teratoma in a mediastinal recurrence of a testicular germ cell tumor post-orchiectomy and chemotherapy. To the best of our knowledge, this is the eighth case of placental site trophoblastic tumor in a male reported so far in the English literature. The purpose of this case report is to add data to the existing literature, review the literature, discuss the differential diagnoses with emphasis on morphologic and immunohistochemical differences between trophoblastic tumors, and highlight the management implications of a correct diagnosis. [ABSTRACT FROM AUTHOR]

Purpose: To compare the diagnostic performance of radiomic analysis with machine learning (ML) model with a convolutional neural network (CNN) in differentiating thymic epithelial tumors (TETs) from other prevascular mediastinal tumors (PMTs). Methods: A retrospective study was performed in patients with PMTs and undergoing surgical resection or biopsy in National Cheng Kung University Hospital, Tainan, Taiwan, E-Da Hospital, Kaohsiung, Taiwan, and Kaohsiung Veterans General Hospital, Kaohsiung, Taiwan between January 2010 and December 2019. Clinical data including age, sex, myasthenia gravis (MG) symptoms and pathologic diagnosis were collected. The datasets were divided into UECT (unenhanced computed tomography) and CECT (enhanced computed tomography) for analysis and modelling. Radiomics model and 3D CNN model were used to differentiate TETs from non-TET PMTs (including cyst, malignant germ cell tumor, lymphoma and teratoma). The macro F1-score and receiver operating characteristic (ROC) analysis were performed to evaluate the prediction models. Result: In the UECT dataset, there were 297 patients with TETs and 79 patients with other PMTs. The performance of radiomic analysis with machine learning model using LightGBM with Extra Tree (macro F1-Score = 83.95%, ROC-AUC = 0.9117) had better performance than the 3D CNN model (macro F1-score = 75.54%, ROC-AUC = 0.9015). In the CECT dataset, there were 296 patients with TETs and 77 patients with other PMTs. The performance of radiomic analysis with machine learning model using LightGBM with Extra Tree (macro F1-Score = 85.65%, ROC-AUC = 0.9464) had better performance than the 3D CNN model (macro F1-score = 81.01%, ROC-AUC = 0.9275). Conclusion: Our study revealed that the individualized prediction model integrating clinical information and radiomic features using machine learning demonstrated better predictive performance in the differentiation of TETs from other PMTs at chest CT scan than 3D CNN model. [ABSTRACT FROM AUTHOR]

Background: Giant mediastinal mature teratomas may cause airway obstruction or decreased venous return due to the mass effect. Preoperative stabilization of the respiratory and circulatory systems is important for perioperative management to safely perform surgery, including general anesthesia. However, to the best of our knowledge, there are only a few reports regarding the preoperative computed tomography (CT)-guided drainage of mediastinal tumors. Case presentation: A 30-year-old woman was admitted to the emergency room with sudden dyspnea. CT findings revealed a giant cystic mass in the anterior mediastinum compressing the trachea and the right main bronchus. The patient was intubated and CT-guided drainage of the fluid content of the cyst was performed to decompress the airway obstruction. Thereafter, the mediastinal tumor was resected during elective surgery and pathologically diagnosed as a mature teratoma. Conclusions: Rescue preoperative CT-guided drainage of a giant mediastinal mature teratoma allowed safe general anesthesia and surgery by releasing the airway obstruction. [ABSTRACT FROM AUTHOR]

Following chemotherapy, a mediastinal germ cell tumor can lead to a mature teratoma that is composed of tissues derived from all three germ layers. Although teratoma is usually curable, in rare cases it can give rise to various somatic tumors and exceptionally it undergoes melanocytic neuroectodermal tumor (MNT) transformation, a process that is not well-described. We report a patient with a postchemotherapy thymic teratoma associated with an MNT component who, 10 years later, additionally presented a vertebral metastasis corresponding to an anaplastic MNT. Using exome sequencing of the mature teratoma, the MNT and its metastatic vertebral anaplastic MNT components, we identified 19 somatic mutations shared by at least two components. Six mutations were common to all three components, and three of them were located in the known cancer-related genes KRAS (p.E63K), TP53 (p.P222X), and POLQ (p.S447P). Gene set enrichment analysis revealed that the melanoma tumorigenesis pathway was enriched in mutated genes including the four major driver genes KRAS, TP53, ERBB4, and KDR, indicating that these genes may be involved in the development of the anaplastic MNT transformation of the teratoma. To our knowledge, this is the first molecular study realized on MNT. Understanding the clinicopathological and molecular characteristics of these tumors is essential to better understand their development and to improve therapeutics. [ABSTRACT FROM AUTHOR]

This case report presents the nursing care experience during Dec 26th, 2018 and Jan 28th, 2019, of a 23-year-old male diagnosed with mediastinal yolk sac tumor at the end of life. The patient was evaluated on physiological, psychological, social, and spiritual levels through observation, interview, physical examination and medical chart review. We identified three major problems including nausea, pain, and grief. The patient's nausea and vomiting were treated by antiemetics and muscle relaxing technique. We used music therapy, puzzles, and other methods to relieve the patient's pain. Multidisciplinary approaches were applied to help the patient to accept death, as well as to affirm life. Finally, the patient was able to find his inner peace at the last stage of life. This case report lights up the discussion on the communication of advance care planning, letting the patient decide their directives, and to live with dignity at the end stage of life. [ABSTRACT FROM AUTHOR]

Intestinal adenocarcinoma spontaneously developing in an anterior mediastinal multilocular teratoma in a 33-year-old female is described. The patient has been experiencing chest distress for several months. On a chest X-ray, a cystic anterior mediastinal mass was identified. A subsequent computed tomography scan revealed a heterogeneous mass measuring 20x15x10 centimeters in the anterior right mediastinum. She underwent a median thoracotomy excision. The histopathologic examination revealed a mature teratoma with intestinal adenocarcinoma metastases associated with pulmonary, cutaneous, and diaphragmatic metastases. [ABSTRACT FROM AUTHOR]

Background: Mature teratomas are benign germ cell tumors. On rare occasions, they have been associated with somatic malignancies and are termed rare germ cell tumors with a somatic-type malignancy (GCTSM). Mature teratomas commonly comprise adenocarcinomas; only seven previous cases of mature teratomas with neuroendocrine tumors have been reported to date. Here, we report a patient with a neuroendocrine tumor whithin a mature teratoma. Case presentation: A 26-year-old man visited our department complaining of chest tightness. Contrast-enhanced computed tomography (CT) scans showed a strongly enhanced lesion within a 10-cm encapsulated cystic lesion in the anterior mediastinum. Positron emission tomography (PET) scans showed no areas of significant 18F-fluorodeoxyglucose (18F-FDG) accumulation. He underwent complete tumor resection via the transsternal approach. Histopathological examination of the specimen indicated a neuroendocrine tumor contained within a mature teratoma. Conclusions: In this case, a neuroendocrine tumor was contained within a mature teratoma. Our patient had no specific symptoms and his serum markers were within the normal range. Although PET is beneficial for diagnosing other GCTSM, it is not useful in detecting a neuroendocrine tumor. Therefore, the preoperative diagnosis of neuroendocrine tumors contained within mature teratomas remains challenging. However, GCTSM should be suspected in patients exhibiting CT findings of a mediastinal tumor, measuring ≥ 6 cm, in addition to characteristic GCTSM findings. Moreover, surgery should be performed carefully in such cases. [ABSTRACT FROM AUTHOR]

Background Primary mediastinal nonseminoma germ cell tumors (PMNSGCT) are a subgroup of nonseminoma germ cell tumors (GCT) with poor prognosis. In this study, PMNSGCT-specific genomic landscape was analyzed and correlated with clinical outcomes. Methods DNA was extracted and sequenced from 28 archival tumor tissue of patients with mediastinal GCT (3 seminoma and 25 nonseminoma). Overall survival (OS) and association with gene alterations were estimated using the Kaplan-Meier and univariate Cox regression methods. Results Three patients (11%) had a karyotype XXY, 17/28 (61%) tumor samples presented chromosome 12p amplification. Somatic mutations were detected in 19/28 (68%) samples. The most frequently mutated genes were: TP53 (13/28; 46%), KIT (5/28; 18%), and KRAS (5/28; 18%). Deleterious TP53 alterations were associated with significantly reduced overall survival (HR: 7.16; P =.012). Conclusions TP53 alterations are common in PMNSGCT and are associated with reduced overall survival, potentially underlying the poor sensitivity to chemotherapy observed in these patients. [ABSTRACT FROM AUTHOR]

The objective of this case report is to highlight the clinical, radiological, and histopathological features of a case of a 33-year-old male patient, who presented to AVBRH, Sawangi (Meghe), Wardha, with an anterior mediastinal mass with superior vena cava syndrome and after detailed studies was diagnosed as a case of germ cell tumor which was further confirmed on immunohistochemistry staining. [ABSTRACT FROM AUTHOR]

The mature teratoma of the mediastinum is a benign tumour made up of several adult-type tissue components which result from the abnormal development of two or three embryonic layers (ectoderm, endoderm or mesoderm). We report the case of a 31-year-old patient, admitted for management of a mediastinal tumour, revealed by a pulmonary supravalvular stenosis, symptomatic of exertional dyspnea and mid-thoracic pain. The clinical examination objectified a respiratory rate at 18 c/min and an oxygen saturation at 96% in ambient air. The chest X-ray showed a mediastinal enlargement with a left paracardiac opacity, while the echocardiac showed a supravalvular pulmonary stenosis, hence the realization of a thoracic computed tomography (CT), which objectified a voluminous anterior mediastinal cystic formation and superior lateralized on the left, with an effect of compression on the trunk of the pulmonary artery. The median sternotomy allowed the complete exeresis of this tumor and the postoperative course was simple. The mature teratoma of the anterior mediastinum should be suspected in view of these clinical and radiological signs in a young patient. Surgery with a complete resection remains the treatment of choice. [ABSTRACT FROM AUTHOR]

Objective: To determine the 5-year overall survival of all the germ cell tumour stages and to identify prognostic factors affecting advanced and metastatic disease outcomes in our institution. Study Design: Cross-sectional analytical study. Place and Duration of Study: Shaukat Khanum Memorial Cancer Hospital and Research Centre, Lahore, Pakistan, from 2008 to 2013. Methodology: We analyzed the overall survival (OS) of the whole study population and sub-analyzed metastatic disease according to the International germ cell cancer group (IGCCCG), and their overall survival was calculated. Clinical, radiological, biochemical, and histopathological evaluation was used to identify risk factors determining disease outcome. Results: After analysing 186 male patients with germ cell tumours, 5-year overall survival for stages I, II, and III was 99%, 72%, and 62%, respectively. IGCCCG subgroup analysis showed that five-year overall survival for seminoma was slighter worse than non-seminoma. Five-year overall survival for reasonable risk and intermediate-risk seminoma was 68% and 46%, respectively. For non-seminoma, good, intermediate, and poor-risk categories carried five-year OS as 94%, 61%, and 49%, respectively. The presence of liver/brain metastasis, size of residual disease, primary mediastinal tumour, and tumor marker failure to decline post-chemotherapy were poor prognostic factors for metastatic disease. Conclusion: While identifying stages in germ cell tumours and classifying metastatic patients according to IGCCCG, individual factors including the location of the primary tumor, brain/liver metastasis, a failure of tumor markers to decline less than 20% after the first chemotherapy cycle and size of residual disease are considered poor prognostic signs. [ABSTRACT FROM AUTHOR]

Background: Teratoma is the second most common mediastinal neoplasm, but malignant transformation in mature teratomas is uncommon, and cases of carcinoid tumor with teratoma are described in only a few studies. In addition, multilocular thymic cyst associated with mature mediastinal teratoma is also a rare entity. There have been no reports of case with the coexistence of these three pathological lesions. Case presentation: The patient was a 24-year-old man who was referred to our hospital due to a 2-day history of left shoulder pain, a feeling of severe chest tightness and high fever. Pre-operative computed tomography (CT) showed a large, fluid-filled and well-demarcated multilocular cyst in the anterior to superior mediastinum measuring up to 12 cm in size. Contrast-enhanced CT also revealed that the tumor contained a solid component with slight contrast enhancement and spotty wall-thickening septation. Therefore, cystic thymoma, thymic cyst, cystic teratoma, or germ cell tumor with an inflammatory reaction were considered as differential diagnoses. The patient underwent tumor extirpation under median sternotomy. The pathological diagnosis was multilocular thymic cyst with mature teratoma including carcinoid tumor (Grade 2) in the mediastinum. Conclusions: The relationship between thymic cyst, teratoma and carcinoid tumor is unclear at present; therefore, further research is needed to clarify the relationship between these entities. In this report, we present a case of multilocular thymic cyst with mature teratoma including a carcinoid component in the mediastinum that was detected by complete surgical resection. [ABSTRACT FROM AUTHOR]

Objective: Rare disease Background: Mediastinal masses can originate from anatomical structures normally located in the mediastinum, or from structures that travel through the mediastinum during embryogenesis. Initial presenting symptoms usually vary from shortness of breath, cough, chest pain, and superior vena cava syndrome to nonspecific constitutional symptoms (eg, fever, weight loss, fatigue). However, the initial presentation of a mediastinal mass with acute pericarditis has not been reported in the literature as far as we know. Case Report: A 20-year-old man presented to the Cardiology Clinic with chest pain and new pericardial effusion on echocardiography, both fulfilling the diagnostic criteria of acute pericarditis. The patient also had venous engorgement on the neck, and a chest X-ray followed by computed tomography imaging showed a large mediastinal mass. The serum tumor marker a-fetoprotein (AFP) was markedly elevated. The biopsy and immunohistochemistry revealed a high-grade malignant neoplasm - yolk sac tumor, which is a type of non-seminomatous germ cell tumor. The acute pericarditis resolved after administration of NSAID and colchicine. The patient was then started on chemotherapy. Conclusions: The discussed case shows the rare presentation of an anterior mediastinal mass with acute pericarditis. This emphasizes the importance of a thorough review of systems and critical analysis of every sign and symptom at the time of initial presentation, which helps the physician to obtain appropriate imaging studies early in the course, leading to an early diagnosis and treatment of the disease, such as in this case of an extremely rare germ cell tumor. [ABSTRACT FROM AUTHOR]

Seminoma is a type of germ cell tumor. In this case presentation, a rare primary germ cell tumor was reported in the form of mediastinal seminoma. A 28-year-old man with symptoms of shortness of breath, chest pain, swelling in the right upper extremity, enlarged lymph nodes in the colli region. Thoracic physical examination revealed signs of pleural fluid in the right hemithorax. After obtaining the results of radiological and pathological investigations, a mediastinal mass was obtained, then BEP chemotherapy was given. After 3 cycles of chemotherapy, a partial response was obtained. Patients with mediastinal seminoma treated with BEP base chemotherapy gave a partial response. [ABSTRACT FROM AUTHOR]

Background: Primary yolk sac tumor of the mediastinum is an extremely rare and highly malignant neoplasm, affecting mainly young men. Method and result: This case report describes a 60‐year‐old man with a mediastinal yolk sac tumor and infiltrating the heart. A large mobile mass was found in the right atrium by transthoracic echocardiography, and myxoma was suspected. However, contrast‐enhanced ultrasonography imaging revealed a remarkable enhancement in the mass. Highly metabolized mass was not only found in the right atrium, also in superior vena cava and right superior mediastinum by whole‐body positron emission tomography‐computed tomography. Supraclavicular lymph node biopsy confirmed the tumor as a primary mediastinum yolk sac. The tumor started to shrink during chemotherapy and AFP levels decreased. This patient significantly benefited from the chemotherapy. Conclusion: Multimodal imaging plays a vital role in the diagnostic workup and management for cardiac mass. [ABSTRACT FROM AUTHOR]

Primary mediastinal nonseminomatous germ cell tumor with extrathoracic metastases is associated with a very high mortality rate, and there is no consensus regarding optimal upfront therapy. Once patients fail the first-line treatment, salvage therapy often fails to effectively control the disease. Resection of the residual mediastinal mass does not appear to achieve long-term control in those who have extrathoracic metastases following conventional first-line systemic therapy. We report a case where a young man presented with symptomatic brain metastases as well as extensive visceral involvement of the liver, small intestine, and lungs. He was successfully managed with multimodality treatment including high-dose chemotherapy with hematopoietic stem cell support following standard first-line chemotherapy, resection of mediastinal disease, lung metastasectomy, and stereotactic brain radiation. He has achieved long-term survival. [ABSTRACT FROM AUTHOR]

Primary mediastinal germ cell tumors are a rare finding, and one third of them are seminomas. Seminomas are found in the anterior mediastinum, whereas they are extremely rare within the posterior compartment. Most clinicians would not consider a primary seminoma in the differential diagnosis of a posterior mediastinal mass, as only two cases have been reported in literature. Here we present the case of a 57-year-old male with a primary seminoma arising in the left posterior mediastinum. He was asymptomatic and the mass was an incidental finding. Positron emission tomography (PET) revealed a small area with an avid tracer uptake. Transthoracic needle aspiration led to a non-diagnostic result. Due to the strong suspect of malignancy, a surgical excision was chosen to obtain a diagnosis. He underwent complete excision, and pathology report demonstrated a mediastinal seminoma. Subsequent further staging did not reveal any other location of the disease. Given the complete excision of the primary tumor, active surveillance was the treatment of choice. The patient is free of disease 48 months after diagnosis. [ABSTRACT FROM AUTHOR]

Extragonadal germ cell tumors account for 2-5.7% of germ cell tumors (GCTs). Of these, primary mediastinal GCTs (PMGCTs) are responsible for 16-36% of cases. Given the rarity of these tumors, specific treatment strategies have not been well defined. We report our experience in treating these complex patients. In total, 318 men treated at our institution with chemotherapy for GCTs between 1980 and 2016 were reviewed. PMGCT was defined as clinically diagnosed mediastinal GCT with no evidence of testicular GCT (physical exam/ultrasound). We identified nine patients diagnosed with PMGCT. All patients presented with an anterior mediastinal mass and no gonadal lesion; four patients also had metastatic disease. Median age at diagnosis was 30 years (range, 14-56) and median mass size at diagnosis was 9 cm (range, 3.4-19). Eight patients had non-seminoma and one had pure seminoma. All patients received cisplatin-based chemotherapy initially. Surgical resection was performed in four patients; three patients had a complete resection and one patient was found to have an unresectable tumor. At a median follow-up of 2 years (range, 3 months-28 years) six patients had progressed. Progression-free survival was short with a median of 4.1 months from diagnosis (range 1.5-122.2 months). Five patients died at a median of 4.4 months from diagnosis. One and 5-year overall survivals were 50% and 38%, respectively. PMGCT are rare and aggressive. Our real-life Canadian experience is consistent with current literature suggesting that non-seminoma PMGCT has a poor prognosis despite prompt cisplatin-based chemotherapy followed by aggressive thoracic surgery. [ABSTRACT FROM AUTHOR]

The mediastinal malignant germ cells tumor represent less than 0.5% of thoracic tumors, although the mediastinum is one of the main extragonadic locations of these tumors. In the majority of cases, young people are those most affected. The prognosis of mediastinal malignant germ cells tumors is poor, especially nonseminomatous germ tumors. In this article, we report a rare case of a young 19-years-old patient treated for a mediastinal germ cell tumor of yolk sac. The patient presented a chest pain; the chest CT showed a right paramedian mediastinal mass with a pleural effusion associated with supraclavicular and cervical lymph nodes. Biopsy revealed a non-seminomatousgerm cell tumor of yolk sac. The exams showed elevated alphafetoprotein (AFP), without any meaningful elevation of other serictumor markers. The patient received 4 cycles of chemotherapy based on etoposide, ifosfamide and platinum salts then a complete excision of the mass. [ABSTRACT FROM AUTHOR]

The mediastinum is the space that separates the lungs from the rest of the chest. The most common mediastinal masses are neurogenic tumors (20% of mediastinal tumors), followed by thymoma(15-20%). Others include lymphoma, pheochromocytoma, germ cell tumors, including teratoma, thyroid tissue, and parathyroid lesions. Lymphoblastic leukemias/ lymphomas are neoplasms of precursor T and B cells, also known as lymphoblasts. The World Health Organization (WHO) classification has unified these entities as precursor B and T-cell lymphoblastic leukemia/lymphoma. We present a rare variant of non-Hodgkins lymphoma in a 12-year-old female who complained of worsening dyspnea and lower left-sided chest pain. The patient was treated empirically with anti-tuberculous drugs without relief. On admission, a CT scan chest showed an anterior mediastinal mass that was approximately 25x12.5 cm adherent to the mediastinal structures, which was removed with the preservation of the phrenic nerve. Histopathology suggested small cells with hyperchromatic nuclei and positive tumor markers. The rarity of this condition can lead to delayed or even misdiagnoses. Therefore, any mass should raise a concern of T-LBL. [ABSTRACT FROM AUTHOR]

Background: Growing teratoma syndrome is a rare condition defined by the presence of enlarging metastatic lesions on serial imaging that arise after or during systemic chemotherapy for nonseminomatous germ cell tumors. Lesions commonly occur in the retroperitoneum, mediastinum, or lung and are notoriously unresponsive to conventional chemoradiotherapy.Methods: In this study, we present a dynamic case of a 26-year-old male, who had undergone surgical resection and systemic bleomycin treatment for a metastatic nonseminomatous germ cell tumor, and later developed recurrent masses in his posterior mediastinum seen on surveillance imaging. Tumor markers remained normal. These lesions were resected via a right robot-assisted thoracoscopic approach with the da Vinci Xi®.Results: The operation was completed successfully with an unremarkable postoperative hospital course. The robotic-assisted right thoracoscopic approach allowed for a minimally invasive dissection with good visualization and minimal morbidity when compared to previous cases of surgically resected mediastinal teratomas. Final pathology demonstrated mature teratomatous elements within a setting of inflammation and necrosis.Conclusions: Robot-assisted thoracoscopic management of metastatic mediastinal lesions in the setting of this rare condition is safe and feasible. [ABSTRACT FROM AUTHOR]

The incidence of mediastinal teratomas is low, it's important to recognize them between all the differential diagnoses for mediastinal tumors. The treatment is surgical resection. We report a giant mature cystic teratoma of the mediastinum in a 40-year-old woman. She presented with dyspnea, flu-like symptoms during the previous 5 days. An x-ray complemented with a chest CT scan showed a heterogeneous extrapulmonary multiloculated and predominantly fluid density tumor located at the left side of the mediastinum. The patient underwent resection by video-assisted thoracic surgery (VATS). The tumor was 15 cm in diameter with a predominant cystic component. Histologic examination revealed a mature cystic teratoma. Treatment of these tumors should attempt a complete resection. Open approaches are painful, require a longer recovery and are associated with higher morbidity. VATS has been used to treat these tumors, demonstrating the same effectiveness and advantages over open procedures. [ABSTRACT FROM AUTHOR]

A 29-year-old male developed acute onset severe shortness of breath and fevers and was found to have a 17 cm anterior mediastinal mass with immature teratoma and possible mixed germ cell tumor on biopsy. He remained hospitalized during neoadjuvant cisplatin-based chemotherapy due to compressive symptoms from his mass and neutropenic fevers. Despite 3 cycles of therapy, his tumor mildly increased in size. After multidisciplinary discussion, he underwent urgent en bloc resection with a right hemi-clamshell incision. His postoperative course was uncomplicated and he was discharged to home within a week. His final pathology demonstrated mixed germ cell tumor. [ABSTRACT FROM AUTHOR]

For extracranial malignant germ cell tumours (MGCTs) in the UK, the GCII study used carboplatin-based chemotherapy (JEb) and demonstrated equivalent survival to cisplatin-containing protocols. GCIII, a single-arm observational study, used new risk stratification, replaced consolidation chemotherapy with a standard number of cycles and introduced surveillance for all stage I MGCTs. Pure teratomas were registered to understand their natural history. Patients with MGCTs were stratified to three risk groups – low risk (LR), intermediate risk (IR) and high risk (HR), using stage and prognostic factors. Patients with alpha fetoprotein (AFP) >10,000 kU/L, stage IV disease (except testis <5 years and all germinomas) or stage II-IV mediastinal tumour were classified HR. Stage I tumours (LR) received chemotherapy only if disease progressed. IR and HR patients received 4 and 6 JEB cycles, respectively. Carboplatin dose was calculated using glomerular filtration rate to give an area under the curve of 7.9 ml/m2.min. Eighty-six patients with MGCTs were enrolled from 2005 to 2009: 59% female, median age, 5.7 years. Twenty-five patients were LR, 21 IR and 38 HR. Seven LR patients had disease progression; all were successfully treated with chemotherapy. Overall survival (OS) for the whole group was 97%; 5-year event-free survival for JEb-treated patients was 92%, and OS, 95%. JEb was well tolerated with no observed significant hearing or renal side-effects. There was no discernible difference in carboplatin dose whether calculated by body surface area or creatinine clearance. Forty-seven patients with teratoma were managed with surgery and one had malignant transformation. Carboplatin-based chemotherapy as part of a risk-stratified approach leads to excellent survival in paediatric MGCTs, minimising potential burden of long-term effects. • Carboplatin is an effective treatment for paediatric extracranial germ cell tumours. • An n+2 strategy of consolidation chemotherapy is unnecessary. • Treatment can probably be safely de-escalated in germinomas. • Carboplatin dosing of 600 mg/m2/cycle is reasonable for most patients. [ABSTRACT FROM AUTHOR]

Yolk sac tumor is the most common malignant neoplasm of germ cell origin and usually occurs in infant testes or ovaries. On rare occasions, the tumor arises from extragonadal sites, including the sacrococcygeal region, uterus, vagina, prostate, retroperitoneum, liver, mediastinum (commonly in the anterior), pineal gland, and third ventricle. Yolk sac tumors have an unfavorable prognosis, if not treated aggressively. We report the case of a 3-year-old boy with a primary posterior mediastinal yolk sac tumor who was managed initially with surgery, followed by chemotherapy and had a favorable prognosis. In the literature on yolk sac tumors presenting as a me- diastinal mass, pediatric germ cell tumors have been reported very rarely in the posterior mediastinum. [ABSTRACT FROM AUTHOR]

Germ cell tumors (GCTs) arise along the midline, in which 50-70% of extragonadal GCTs occur in the mediastinum. Malignant GCTs are more common in males, while benign GCTs occur equally in both males and females. This report presents a case of a giant primary mediastinal nonseminomatous GCT resected from a 35-year-old male who presented with dyspnoea and tightness in the chest. Thorough investigations including a chest MRI were done. It showed a 21×19×15 cm tumor. Thus, surgical resection of the tumor through a midline sternotomy was done. Histopathological analysis diagnosed the tumor as a primary mediastinal teratocarcinoma with a sarcomatous component. Eighteen-month follow-up showed no tumor recurrence. Mediastinal teratocarcinoma is a rare and life-threatening germ cell tumor. Studies recommend the use of chemotherapy prior to resection as an important step in its management. Close and regular follow-up postsurgical resection is advised. [ABSTRACT FROM AUTHOR]

► Chest Pain ► Shortness of breath ► Electrocardiogram abnormality. [ABSTRACT FROM AUTHOR]

CT-guided biopsy showed tumour cells with eosinophilic/clear cytoplasm forming sheets and nests (Fig. Reported neoplasms included acute myeloid leukaemia, acute lymphoblastic leukaemia, lymphomas and myeloproliferative neoplasms [[6]], amongst which AMKL was most frequent [[7]]. A common founding clone with TP53 and PTEN mutations gives rise to a concurrent germ cell tumor and acute megakaryoblastic leukemia. Hematopoietic precursor cells within the yolk sac tumor component are the source of secondary hematopoietic malignancies in patients with mediastinal germ cell tumors. [Extracted from the article]

Mature teratoma is a benign, slow growing tumour. It usually affect adults in 20-40 years of age. Teratomas with mature pancreatic tissue are extremely rare. There are only a few cases of teratoma containing mature pancreatic tissue that have been reported in literature. Authors report a case of a 25-year-old male having a large solid cystic anterior mediastinal mass, which on excision, histologically revealed large areas of mature pancreatic tissue along with squamous epithelium with sebaceous glands and keratin, pseudostratified columnar ciliated epithelium, mucin secreting glands, cartilage, pigment and other germ cell derived mature elements. This is a unique case with unusual microscopic findings in the form of predominant pancreatic and also brain tissue along with other elements. [ABSTRACT FROM AUTHOR]

Background: Males with Klinefelter syndrome (KS) (47,XXY) may be more likely to develop germ cell tumors (GCTs), particularly mediastinal GCTs. To date, there are no reports characterizing the prevalence of KS among male GCT cases.Methods: The authors used array genotyping data from a Children's Oncology Group epidemiology study to estimate the prevalence of KS in males with GCTs (433 males aged birth-19 years). Using Fisher's exact tests, the authors examined differences in age at diagnosis, race/ethnicity, tumor location and histology, and several birth characteristics between cases of KS-GCT and GCT cases without chromosomal abnormalities. Using publicly available data, the authors estimated the 1-year risk, risk ratio, and corresponding 95% confidence interval of GCTs among KS cases.Results: Based on analysis of array genotyping data, 3% of male GCT cases (13 cases) had KS. The additional X chromosome was of maternal origin in 7 of the 13 cases. Of these 13 KS cases, 5 of 9 KS-GCT cases with parental questionnaire data (56%) reported a diagnosis of KS. No significant differences were observed with regard to patient or birth characteristics between KS-GCT and non-KS-GCT cases. KS-GCT cases were significantly more likely to be diagnosed with mediastinal tumors than non-KS-GCT cases (P<.01). The authors estimated the risk of developing a GCT among males with KS to be 0.00025, or 1 per 4000 males (risk ratio, 18.8; 95% confidence interval, 11.7-30.0).Conclusions: Compared with males without chromosomal abnormalities, males with KS are more likely to be diagnosed with a mediastinal GCT. The presence of KS should be considered in males with a diagnosis of mediastinal GCT. In the current study, the authors report that approximately one-third of males with mediastinal germ cell tumors have Klinefelter syndrome, and therefore screening of these individuals for the syndrome may be warranted. Males with Klinefelter syndrome are 19 times as likely as males without Klinefelter syndrome to develop germ cell tumors. [ABSTRACT FROM AUTHOR]

Primary extragonadal malignant germ cell tumors (EMGCTs) are rare and account for only 2-5% of malignant germ cell tumors. Vascular tumors are uncommon mediastinal masses making up < 1% of all mediastinal masses. We report the case of a 20-year-old man presenting with a germ cell seminoma as well as an atypical hemangioma encapsulated in one mass within the mediastinum. This clinical report focuses on a 20-year-old man who presented with both a germ cell seminoma as well as an atypical hemangioma within one encapsulated mass, a unique case not presented before in literature to our knowledge. The histological analysis is essential in correctly diagnosing a neoplasm. Combining the unique histology of this case with the clinical and scientific knowledge of several specialties allowed the clinicians to successfully develop a treatment for this patient. [ABSTRACT FROM AUTHOR]

Background: Primary mediastinal yolk sac tumor, which is also known as endodermal sinus tumor, is a rare but lethal neoplasm, and it is a kind of mediastinal non‐seminomatous germ cell tumor. The current standard treatment in mediastinal non‐seminomatous germ cell tumors is chemotherapy combined with postchemotherapy residual mass resection. We report on seven cases of primary mediastinal yolk sac tumor treated with platinum‐based chemotherapy and extended resection. Methods: We experienced seven cases of primary mediastinal yolk sac tumor between August 2014 and August 2017. All cases had markedly raised α‐fetoprotein and normal β‐human chorion gonadotropin. Computed tomography scan revealed an anterior mediastinal tumor in all cases. Five patients underwent needle core biopsy, which showed a mediastinal yolk sac tumor. They received preoperative platinum‐based chemotherapy and then underwent extended resection, and four of them received postoperative platinum‐based chemotherapy. Two other patients did not receive preoperative biopsy, and they underwent surgical extended resection and then received postoperative platinum‐based chemotherapy. Results: Two patients (29%) experienced a postoperative complication, including one pneumonia and one atelectasis. There were no operative deaths. R0 resection was achieved in six patients (86%), and R2 resection was achieved in the other patient. Three patients experienced pulmonary metastases within one year, and two of them soon died. Four other patients were alive without recurrence at the time of writing. Conclusion: Primary mediastinal yolk sac tumor is rare, and the prognosis is poor. A multimodality aggressive approach including adjuvant chemotherapy followed by surgical resection is the optimal treatment and may lead to long‐term survival. [ABSTRACT FROM AUTHOR]

Less than 5%-7% of germ cell tumors are extragonadal, with the central nervous system being the most common location in children, followed by retroperitoneum and mediastinum. Only 10% of mediastinal tumors are malignant and one-third of these are pure seminomas (germinomas). We report the case of a 9-year-old boy with development of secondary sexual characteristics. Beta-human chorionic gonadotropin was elevated and a mediastinal mass was found. Final histology showed a pure seminomatous germ cell tumor. To our knowledge, this is the first report of a boy with precocious puberty secondary to a mediastinal germinoma. [ABSTRACT FROM AUTHOR]