Tsuchida Y, Yokomori K, Choi S H
Department of Pediatric Surgery, University of Tokyo.
Nihon Rinsho. 1995 Nov;53(11):2742-8.
The genetics and associated abnormalities of Wilms' tumor are reviewed. Wilms' tumor is associated with several congenital syndromes such as WAGR (Wilms' tumor, aniridia, genitourinary malformation, mental retardation) syndrome, Denys-Drash syndrome, Beckwith-Wiedemann syndrome, etc. However, the association with such syndromes is relatively infrequent and accounts for less than 5% of all clinical patients with Wilms' tumor. WAGR syndrome and Denys-Drash syndrome are associated with loss of WT1 gene located in the chromosome 11p13, and BW syndrome is considered to be due to duplication of the paternal 11p15 allele (WT2). The association of Wilms' tumor with primary brain tumors in a daughter and a mother is also described.
本文综述了肾母细胞瘤的遗传学及相关异常情况。肾母细胞瘤与多种先天性综合征相关，如WAGR（肾母细胞瘤、无虹膜、泌尿生殖系统畸形、智力发育迟缓）综合征、Denys-Drash综合征、Beckwith-Wiedemann综合征等。然而，与这些综合征的关联相对较少，在所有临床肾母细胞瘤患者中占比不到5%。WAGR综合征和Denys-Drash综合征与位于11号染色体p13区域的WT1基因缺失有关，而BW综合征被认为是由于父本11号染色体p15等位基因（WT2）的重复所致。文中还描述了一名女儿和一名母亲的肾母细胞瘤与原发性脑肿瘤的关联情况。
