Breslow N E, Beckwith J B
J Natl Cancer Inst. 1982 Mar;68(3):429-36.
Nearly 2,000 children with Wilm's tumor registered in a national clinical trial during 1969-81 showed high rates of aniridia, hemihypertrophy, cryptorchidism, hypospadias, and other genitourinary anomalies. Patients with bilateral disease, who constituted 5% of the total, had younger ages at diagnosis and an increased incidence of congenital anomalies and renal blastemal rests. Those with multicentric unilateral lesions had more blastemal rests but were otherwise indistinguishable from the unicentric cases. The 20 familial cases had none of the features usually associated with genetic tumors: neither younger ages nor an increase in bilaterality nor associated congenital anomalies. These observations suggest that the fraction of Wilm's tumors that is due to an inherited mutation may be substantially smaller than previously supposed and support the concept that the disease arises from a variety of pathogenetic pathways.
1969年至1981年期间,近2000名患有威尔姆斯瘤的儿童参加了一项全国性临床试验,结果显示无虹膜、半身肥大、隐睾、尿道下裂和其他泌尿生殖系统异常的发生率很高。双侧患病的患者占总数的5%,他们诊断时年龄较小,先天性异常和肾母细胞瘤残余的发生率增加。多中心单侧病变的患者有更多的母细胞瘤残余,但在其他方面与单中心病例没有区别。20例家族性病例没有通常与遗传性肿瘤相关的特征:既没有更年轻的年龄,也没有双侧性增加,也没有相关的先天性异常。这些观察结果表明,由遗传突变引起的威尔姆斯瘤的比例可能比以前认为的要小得多,并支持该疾病源于多种致病途径的概念。