CAJ | 학술논문

目的报告家族性髓母细胞瘤1例并对文献进行回顾,探讨其可能病因.方法该家族中共有4名患者,其中少年儿童3例,成人1例;男3例,女1例,有2名患者为同胞姐弟,表现为颅高压症状,均接受手术治疗.结果 4名患者病理证实髓母细胞瘤,其中1例于术后次日死亡,2例因肿瘤复发已死亡,1例现存活良好.结论家族性髓母细胞瘤罕见,家族性髓母细胞瘤的发病可能与家族遗传易感性有关,但确切的发病机制及遗传学仍不明了,需进一步深入研究.
목적 보고가족성수모세포류1례병대문헌진행회고,탐토기가능병인.방법 해가족중공유4명환자,기중소년인동3례,성인1례;남3례,녀1례,유2명환자위동포저제,표현위로고압증상,균접수수술치료.결과 4명환자병리증실수모세포류,기중1례우술후차일사망,2례인종류복발이사망,1례현존활량호.결론 가족성수모세포류한견,가족성수모세포류적발병가능여가족유전역감성유관,단학절적발병궤제급유전학잉불명료,수진일보심입연구.
Objective We report a case of familial medulloblastoma in one family and review the literature to discuss the possible pathogenesis.Method We describe the presentation of medulloblastom in two siblings and their two relatives showing male preponderance,3 male and 1 female.They had underwent resection of the posterior fossa masses due to intracranial hypertension.Resuits Histological sections of tumors revealed medulloblastoma.One patient died on the second day after operation,two died of the recurrence of the tumor,the rest was living well.Conclusions Familial medulloblastomas are rare.To our knowledge.only 11 case reports of familial medulloblastoma have been published.This article has maximum patients in one family of medulloblastoma,and the family is the second case involving members of different generations.The familial clustering of these tumors does suggest genetic susceptibility in these families,but the exact pathogenesis and genetics involved in familial medulloblastoma remain unclear.Further study is needed.