Extragonadal germ cell tumor and Klinefelter's syndrome - Case report

• Autor(a) principal: Zukin, Mauro
• Data de Publicação: 2022
• Outros Autores: Alonso, João Francisco S., Costa, Mário Alberto Dantas L. da, Silva, Maria Luisa M.
• Tipo de documento: Artigo
• Idioma: por
• Título da fonte: Revista Brasileira de Cancerologia (Online)
• Texto Completo: https://rbc.inca.gov.br/index.php/revista/article/view/2904
• topic: Tumor Germinativo Extragonadal; Síndrome De Klinefelter; Extragonadal Germ Cell Tumours; Klinefelter's Syndrome

Many case reports have suggested an association between Klinefelter's syndrome and germ cell tumours. A considerably elevated risk of mediastinal germ cell tumours occurs in the period from early adolescense until the age of 30. The author presents a case of a 19-year-old young man with respiratory symptoms, thoracic mass and phenolypic features of Klinefelter's syndrome. The patient's peripheral blood karyotype was 47, XXY and the study of the thoracic mass concluded that it was an imature teratoma. The patient was treated with combination chemotherapy followed by salvage surgery and remained in complete remission 6 years after diagnosis. The clinical and laboratory aspects of the patients with extragonodal germ cell tumors associated with Klinefelter's syndrome are discussed. Also discussed is the participation of Klinefelter's syndrome in the development of germ cell malignancies.