Extragonadal mediastinal germ cell tumor

Extragonadal germ cell tumors (GCTs) are neoplasms that develop from germ cells and have a similar histopathological structure with the gonadal forms of GCTs, but are located outside the gonads. GCTs are the most common malignant neoplasms in men aged 15–35. From 1 to 5 % of malignant GCTs are of the extragonadal origin.The work describes a clinical case of extragonadal mediastinal germ cell tumor, which was diagnosed at the stage of the histological examination of the surgical material.

A Young Female with Mass Originating from Middle Lobe of Lung-Choriocarcinoma: Extragonadal Germ Cell Tumor

Extragonadal germ cell tumors are the rare tumors originate commonly from the mediastinum and the reason is still unknown however; there are theories, which suggest that the gonadal cells in the mediastinum represent reverse migration from the gonads. A young female presented with mass originating from the middle lobe of lung and right sided pleural effusion that was drained, and biopsy was taken from the mass; diagnosed as choriocarcinoma. She received (BEP) Bleomycin, Etoposide and Cisplatin chemotherapy; responded well and her symptoms improved.

Extragonadal Germ Cell Tumors in Children and Adolescents - a 20 Year Study

Germ cell tumors (GCT) are rare neoplasms which are seen in all age groups and both sexes. Gcts in the pediatric age group show considerable variation from their adult counterparts in relation to site, histological type, clinical and radiological features and response to treatment. Extragonadal gcts are much more common in the pediatric age group with the most common sites being sacrococcygeal region, head and neck, retroperitoneum and mediastinum. Unusual sites like the vagina and urinary bladder have also been reported. Therefore, the varied presentations and different treatment options should be considered.

Extragonadal Germ Cell Tumors in the Mexican Population

Aim: Extragonadal Germ Cell Tumors (EGGCT) are rare malignancies which represent a unique entity because their biology and behavior is substantially different from the tumors whose source is the gonads. Methods: All cases of Extragonadal Germ Cell Tumors diagnosed and treated at the Department of Oncology of the General Hospital in Mexico City between 2015 and 2020 were retrospectively evaluated to determine the clinical and pathological characteristics of the tumors as well as the different treatments utilized and follow-up. Results: Among a total of 50 patients, the mediastinum was the most frequent location, being found in 46 patients followed by 2 in the retroperitoneal space, 1 in the ethmoidal air cells, and 1 in the pineal gland. The predominant histopathology was a mixed germinal tumor in 82% of the cases with the rest being pure seminomas. All patients received first-line systemic treatment followed by surgery or second-line treatment according to their initial response to therapy. Conclusions: Extragonadal Germ Cell Tumors require a multidisciplinary approach to achieve an adequate diagnosis and treatment. The clinical and pathological differences like tumor site, histopathological type, and tumor stage influence the progression-free survival and the global overall survival.

Klinefelter syndrome and germ cell tumors: review of the literature

Objective The most common presentation of Klinefelter syndrome (KS) is infertility and features of hypogonadism. Currently no consensus exists on the risk of malignancy in this syndrome. Several case reports show an incidence of extragonadal germ cells tumors (eGCT) of 1.5 per 1000 KS patients (OR 50 against healthy population). Malignant germ cell tumors are rare in children. They account for 3% of all children cancers. Young patients with a germ cell tumor are not routinely tested for Klinefelter syndrome. This can therefore result in underdiagnosing. Literature data suggest a correlation between eGCT and KS. To the best of our knowledge there is no precise description of the primary locations of germ cell tumors in KS patients. The purpose of this study is to evaluate age groups and primary locations of extragonadal germ cell tumors in Klinefelter patients. With this data we investigate whether it is necessary to perform a cytogenetic analysis for KS in every eGCT patient. Study design This study is based on case report publications in PubMed/Medline published until march 2020 that described “Klinefelter Syndrome (MeSH) AND/OR extragonadal germ cell tumors”. Publications were included when patients age, location and histology of the germ cell tumor was known. Two double blinded reviewers selected the studies.Results: 141 KS patients with eGCTs were identified. Mean age at presentation was 17.3 years (StDev + − 10.2). In contrast to the extragonadal germ cell tumors in adults, most eGCT in children were mediastinal or in the central nervous system (respectively 90/141; 64% and 23/141; 16% of all tumors). Distribution of histologic subtypes showed that the largest fraction represented a teratoma, mixed-type-non-seminomateus GCT and germinoma, respectively 34/141; 24%, 26/141; 18% and 20/141; 14% of all tumors. Conclusion These data suggest a correlation between primary extragonadal germ cell tumors and Klinefelter syndrome. There appears to be an indication for screening on KS in young patients with an eGCT in the mediastinum. A low threshold for radiologic examinations should be considered to discover eGCT. We emphasize the need for genetic analysis in all cases of a male with a mediastinal germ cell tumor for the underdiagnosed Klinefelter syndrome.