Maurer H S, Pendergrass T W, Borges W, Honig G R
Cancer. 1979 Jan;43(1):205-8. doi: 10.1002/1097-0142(197901)43:1<205::aid-cncr2820430130>3.0.co;2-7.
Wilms' tumor was diagnosed in two children each of whom has an identical twin. In one of the pairs of twins the aniridia syndrome with psychomotor retardation was present in both children, but Wilms' tumor was found in only one. In the other twins hemihypertrophy as well as Wilms' tumor were identified in one child, whereas neither of these abnormalities was present in her twin sister. These findings lend support to a hypothesis that the development of Wilms' tumor requires the occurrence of two successive mutational events, one of which may be a germinal mutation. The presence of aniridia, hemihypertrophy, or other associated congenital abnormalities may aid in distinguishing between hereditary and sporadic forms of Wilms' tumor.
两名患有Wilms瘤的儿童各自都有一个同卵双胞胎。在其中一对双胞胎中，两个孩子都患有伴有精神运动发育迟缓的无虹膜综合征，但Wilms瘤仅在其中一个孩子身上被发现。在另一对双胞胎中，一个孩子被诊断出患有半身肥大以及Wilms瘤，而她的双胞胎姐姐则没有这些异常情况。这些发现支持了一种假说，即Wilms瘤的发生需要两个连续的突变事件，其中之一可能是生殖细胞突变。无虹膜、半身肥大或其他相关先天性异常的存在可能有助于区分Wilms瘤的遗传性和散发性形式。
