ABSTRACT

Introduction: Wilms tumor (WT) is the most common renal malignancy of children and can be seen in WAGR syndrome (WT, aniridia, genitourinary anomalies, and intellectual disability). WAGR results from a contiguous gene deletion within the 11p13 region, encompassing the WT1 gene, often responsible for WT development, and the PAX6 gene, responsible for aniridia. Aniridia, a pan-ocular disease resulting from iris hypoplasia, is thought to increase the risk for WT development if their genetic alteration spans both the WT1 and the PAX6 genes on 11p13.

Case Description: We describe a unique case of a patient with aniridia secondary to a heterozygous PAX6 nonsense mutation who developed WT despite no additional identifiable germline genetic drivers for this disease.

Discussion: Isolated mutations in PAX6 previously have not been associated with increased risk of WT development case raises the question of if surveillance for WT should be continued in patients with aniridia with an isolated PAX6 mutation identified.

摘要

简介：威尔姆斯瘤（WT）是儿童最常见的肾脏恶性肿瘤，可以在WAGR综合征（WT，无虹膜，泌尿生殖系统异常和智力残疾）中看到。WAGR是由11p13区域内的连续基因缺失引起的，该基因缺失通常负责WT发育的WT1基因和负责无虹膜的PAX6基因。如果虹膜发育不全导致全眼疾病无虹膜，如果其遗传变异跨越11p13上的WT1和PAX6基因，则被认为会增加WT发生的风险。

病例描述：我们描述了一个独特病例，该患者患有继发于杂合性PAX6无义突变的无虹膜患者，尽管该疾病没有其他可识别的种系遗传驱动因素，但该患者仍患有WT。

讨论：以前PAX6的孤立突变与WT发生风险增加没有关联。病例提出了以下问题：是否应在已鉴定出孤立的PAX6突变的无虹膜患者中继续进行WT监测。