Abstract

Background: WT1 deletions are associated with nephroblastomas, WT mutations are associated with 46, XY sex reversal. It is unclear why only a few WT1 deletions are associated with sex reversal. Case report. This 46, XY female had a 15.2 MB interstitial deletion of 11p14.1p11.2, which included WT1 and FSHB. No pathogenic abnormalities were identified in 156 other genes associated with disorders of sexual development. Bilateral gonadoblastomas were incidentally diagnosed at 17 months of age at the time of prophylactic gonadectomies. She was treated without biopsy for bilateral nephroblastomas radiologically identified at 18 months of age. Bilateral partial nephrectomies contained treated intralobular nephrogenic rests. Conclusion: It is unclear why WT1 deletions are less associated with 46, XY sex reversal than WT1 mutations. Treating suspected nephroblastomas without biopsy, even in patients with syndromes associated with bilateral nephroblastomas, may still lead to diagnostic and therapeutic uncertainties.

摘要

背景： WT1 缺失与肾母细胞瘤相关，WT 突变与 46，XY 性反转相关。目前尚不清楚为什么只有少数 WT1 缺失与性反转相关。病例报告。这名 46 岁的 XY 女性有 15.2 MB 的 11p14.1p11.2 间隙缺失，其中包括 WT1 和 FSHB。在与性发育障碍相关的 156 个其他基因中未发现致病异常。双侧性腺母细胞瘤是在 17 个月大时在预防性性腺切除术时被偶然诊断出来的。她在 18 个月大时因放射学确定的双侧肾母细胞瘤而接受了未经活检的治疗。双侧肾部分切除术包含经过处理的小叶内肾源性残余物。结论：目前尚不清楚为什么 WT1 缺失与 46, XY 性反转的相关性低于 WT1 突变。在不进行活检的情况下治疗疑似肾母细胞瘤，即使是患有双侧肾母细胞瘤相关综合征的患者，仍可能导致诊断和治疗的不确定性。