Assuntos
Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Feminino , Humanos , Pessoa de Meia-Idade , /metabolismo , Disgerminoma/enzimologia , Hipercalcemia/enzimologia , Hipercalcemia/etiologia , Neoplasias Ovarianas/enzimologia , Ovário/enzimologia , /genética , /metabolismo , Disgerminoma/genética , Disgerminoma/patologia , Macrófagos/enzimologia , Macrófagos/patologia , Glicoproteínas de Membrana/metabolismo , Neoplasias Ovarianas/genética , Neoplasias Ovarianas/patologia , Reação em Cadeia da Polimerase Via Transcriptase Reversa , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Receptores de Superfície Celular/metabolismo , Receptores Toll-LikeRESUMO
Familial testicular germ cell tumors are well known in literature. Only few cases are reported where both brother and sister of the same family suffered from germ cell malignancies. We present a family where the proband is a survivor of ovarian dysgerminoma stage IA. Her elder male sibling became acutely ill and was detected to have disseminated testicular malignancy with grossly elevated markers and vegetations in the mitral valve leaflets. Despite all measures he could not be saved. Presence of germ cell malignancies in the siblings of different sex in the same family points toward a genetic susceptibility. Literature review revealed only six similar cases. A discussion regarding the rare occurrence of familial germ cell malignancies with the affected family members may be worthwhile.
Assuntos
Adolescente , Disgerminoma/etiologia , Disgerminoma/genética , Feminino , Família , Germinoma/etiologia , Germinoma/genética , Humanos , Masculino , Neoplasias Embrionárias de Células Germinativas/etiologia , Neoplasias Embrionárias de Células Germinativas/genética , Irmãos , Neoplasias Testiculares/etiologia , Neoplasias Testiculares/genéticaRESUMO
Gonadoblastomas are rare germ cell and sex cord stromal tumours, often associated with dysgerminomas. They occur almost entirely in patients with pure or mixed gonadal dysgenesis and in male pseudohermaphroditism. A 19 year old female was admitted in our hospital for evaluation of primary amenorrhoea. She had poor secondary sexual characters, left sided streak gonad and right sided ovarian tumour. Histopathology showed gonadoblastoma in streak gonad with contralateral dysgerminoma. This case is presented because of its rarity and clinical importance of recognizing such cases because of excellent prognosis.