患儿双侧肾母细胞瘤合并 Denys-Drash 综合征：新型移码突变导致 WT1 核定位信号区失活。
Bilateral Wilms' tumor in a child with Denys-Drash syndrome: novel frameshift variant disrupts the WT1 nuclear location signaling region.
机构信息
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.
出版信息
J Pediatr Endocrinol Metab. 2022 Mar 21;35(6):837-843. doi: 10.1515/jpem-2021-0673. Print 2022 Jun 27.
OBJECTIVES
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.
CASE PRESENTATION
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.
CONCLUSIONS
This molecular finding is compatible with the severe scenario regarding the Wilm's tumor presented by the patient even though nephropathy was absent.
目的
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。
病例介绍
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。
结论
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。
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