Scott R H, Stiller C A, Walker L, Rahman N
Section of Cancer Genetics, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey SM2 5NG, UK.
J Med Genet. 2006 Sep;43(9):705-15. doi: 10.1136/jmg.2006.041723. Epub 2006 May 11.
Wilms tumour has been reported in association with over 50 different clinical conditions and several abnormal constitutional karyotypes. Conclusive evidence of an increased risk of Wilms tumour exists for only a minority of these conditions, including WT1 associated syndromes, familial Wilms tumour, and certain overgrowth conditions such as Beckwith-Wiedemann syndrome. In many reported conditions the rare co-occurrence of Wilms tumour is probably due to chance. However, for several conditions the available evidence cannot either confirm or exclude an increased risk, usually because of the rarity of the syndrome. In addition, emerging evidence suggests that an increased risk of Wilms tumour occurs only in a subset of individuals for some syndromes. The complex clinical and molecular heterogeneity of disorders associated with Wilms tumour, together with the apparent absence of functional links between most of the known predisposition genes, suggests that abrogation of a variety of pathways can promote Wilms tumorigenesis.
据报道，肾母细胞瘤与50多种不同的临床病症以及几种异常的染色体核型有关。其中只有少数病症存在肾母细胞瘤风险增加的确凿证据，包括与WT1相关的综合征、家族性肾母细胞瘤以及某些过度生长病症，如贝克威思-维德曼综合征。在许多已报道的病症中，肾母细胞瘤罕见的同时出现可能是出于偶然。然而，对于几种病症，现有证据既不能证实也不能排除风险增加，这通常是由于该综合征较为罕见。此外，新出现的证据表明，某些综合征中只有一部分个体患肾母细胞瘤的风险会增加。与肾母细胞瘤相关病症的复杂临床和分子异质性，以及大多数已知易感基因之间明显缺乏功能联系，表明多种信号通路的缺失可促进肾母细胞瘤的发生。
