Center for Molecular Biology and Genetic Engineering - CBMEG, State University of Campinas, São Paulo, Brazil.
Interdisciplinary Group for the Study of Sex Determination and Differentiation - GIEDDS, State University of Campinas, São Paulo, Brazil.
J Pediatr Endocrinol Metab. 2022 Mar 21;35(6):837-843. doi: 10.1515/jpem-2021-0673. Print 2022 Jun 27.
Wilm's Tumor (WT) is the most common pediatric kidney cancer. Whereas most WTs are isolated, approximately 5% are associated with syndromes such as Denys-Drash (DDS), characterized by early onset nephropathy, disorders of sex development and predisposition to WT.
A 46,XY patient presenting with bilateral WT and genital ambiguity without nephropathy was heterozygous for the novel c.851_854dup variant in gene sequence. This variant affects the protein generating the frameshift p.(Ser285Argfs*14) that disrupts a nuclear localization signal (NLS) region.
This molecular finding is compatible with the severe scenario regarding the Wilm's tumor presented by the patient even though nephropathy was absent.
肾母细胞瘤（WT）是最常见的儿童肾癌。虽然大多数 WT 是孤立的，但约有 5%与综合征有关，如 Denys-Drash（DDS），其特征为早期肾病、性发育障碍和 WT 易感性。
一名 46,XY 患者双侧 WT 和生殖器模糊，无肾病，基因序列中存在 novel c.851_854dup 变异杂合子。该变异影响生成导致框移的蛋白质 p.(Ser285Argfs*14)，破坏核定位信号 (NLS) 区域。
尽管没有肾病，但该分子发现与患者的 Wilm's 肿瘤严重情况相符。
