Department of Genetics and Genome Sciences, Case Western Reserve University.
Center for Human Genetics, University Hospitals, Cleveland, OH.
J Pediatr Hematol Oncol. 2023 Jan 1;45(1):e128-e130. doi: 10.1097/MPH.0000000000002498. Epub 2022 Jun 9.
Biallelic variants in DI3SL2 cause Perlman Syndrome, associated increased risk for Wilms tumor. Cutis Marmorata Telangiectatica Congenita (CMTC) is a rare congenital disorder characterized by cutaneous vascular anomalies. We report a 2-year-old boy with both Wilms tumor and CMTC. Genetic testing, prompted by his complex presentation, revealed 1 somatic mutation and 1 familial germline mutation in the DIS3L2 gene, suggesting a 2-hit causation of Wilms tumor. Separately, a single GNA11 somatic mutation was identified to explain the CMTC. We suggest that genetic testing for germline mutations associated with Wilms tumor susceptibility be considered even in cases without known family history.
DI3SL2 中的双等位基因突变导致 Perlman 综合征，并增加 Wilms 瘤的发病风险。先天性大理石样皮肤毛细血管扩张症（CMTC）是一种罕见的先天性疾病，其特征为皮肤血管异常。我们报告了一例同时患有 Wilms 瘤和 CMTC 的 2 岁男孩。由于其复杂的表现，我们对其进行了基因检测，结果显示 DIS3L2 基因存在 1 个种系突变和 1 个家族性胚系突变，提示 Wilms 瘤的发生存在 2 次打击。此外，还发现了一个单独的 GNA11 种系突变，可解释 CMTC 的发生。我们建议，即使在没有家族史的情况下，也应考虑对与 Wilms 瘤易感性相关的种系突变进行基因检测。
