Challa V R, Goodman H O, Davis C H
Neurosurgery. 1983 Jan;12(1):18-23. doi: 10.1227/00006123-198301000-00004.
We studied two families in each of which three or more individuals were affected by brain tumors. In the first family, which had no evidence of neurofibromatosis or tuberous sclerosis, a man, his sister, and her son developed histologically proven gliomas; the man's great uncle was historically reported to have died from a brain tumor, but the exact nature of the tumor was not known. In this family two of the tumors were low grade astrocytomas of the cerebrum, whereas the third was a mixed glioma of the cerebellum. Karyotypic analysis of this tumor showed no marker chromosomes. A second family had a history of an unusual concentration of brain tumors. In one patient the tumor was a histologically verified glioma. Four other patients had historically reported brain tumors, the descriptions of which suggested gliomas. Both families showed involvement of individuals in adjacent generations, although in both instances there were skipped generations. Twins, siblings, or parents and children are the kindred groups affected in most other reported families with multiple brain tumors. The mode of inheritance of brain tumors in these two families and recent literature on the conditions associated with familial brain tumors are discussed.
我们研究了两个家族，每个家族中有三个或更多个体患有脑肿瘤。在第一个家族中，没有神经纤维瘤病或结节性硬化症的证据，一名男子、他的妹妹和她的儿子患了经组织学证实的胶质瘤；据历史记载，该男子的叔祖父死于脑肿瘤，但肿瘤的确切性质不明。在这个家族中，有两个肿瘤是大脑的低级别星形细胞瘤，而第三个是小脑的混合性胶质瘤。对该肿瘤的核型分析未发现标记染色体。第二个家族有脑肿瘤异常集中的病史。在一名患者中，肿瘤是经组织学证实的胶质瘤。另外四名患者据历史记载有脑肿瘤，其描述提示为胶质瘤。两个家族均显示相邻两代个体受累，尽管在这两个家族中都有隔代情况。在其他大多数报道的有多发性脑肿瘤的家族中，受累的亲属群体是双胞胎、兄弟姐妹或父母与子女。本文讨论了这两个家族中脑肿瘤的遗传方式以及近期关于与家族性脑肿瘤相关情况的文献。
