Cyriac Sanju, Rajendranath Rejeev, Louis A Robert, Sagar T G
Department of Medical Oncology, Cancer Institute (WIA), Adyar, Chennai, India.
Indian J Hum Genet. 2012 Jan;18(1):119-21. doi: 10.4103/0971-6866.96679.
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.
家族性睾丸生殖细胞肿瘤在文献中已广为人知。仅有少数病例报道同一家庭中的兄妹均患有生殖细胞恶性肿瘤。我们报告了一个家系,先证者为一名IA期卵巢无性细胞瘤幸存者。她的兄长突发重病,经检测患有播散性睾丸恶性肿瘤,标志物显著升高且二尖瓣叶有赘生物。尽管采取了所有措施,他仍未能获救。同一家庭中不同性别的兄妹均患生殖细胞恶性肿瘤提示存在遗传易感性。文献回顾仅发现6例类似病例。与受影响的家庭成员讨论家族性生殖细胞恶性肿瘤的罕见发生情况可能是有价值的。