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一名患有细胞性先天性中胚层肾瘤患者的致病性胚系BRCA1变异:病例报告

A Pathogenic Germline BRCA1 Variant in a Patient With Cellular Congenital Mesoblastic Nephroma: A Case Report.

作者信息

Dholakia Gayatri, Meade Julia

机构信息

Public Health, University of Pittsburgh, Pittsburgh, USA.

Pediatrics, University of Pittsburgh Medical Center, Pittsburgh, USA.

出版信息

Cureus. 2023 Aug 21;15(8):e43857. doi: 10.7759/cureus.43857. eCollection 2023 Aug.

Abstract

Benign cystic tumors of the kidney are well-described in infants and young children. Here we report an infant diagnosed with a cellular congenital mesoblastic nephroma (CMN) with a germline pathogenic variant in BRCA1. This finding is novel because BRCA1 is an adult-onset cancer predisposition gene causing breast, ovarian, pancreatic, and prostate cancers. However, increasing studies are indicating the presence of germline BRCA1 in both malignant and benign childhood cancers.

摘要

肾良性囊性肿瘤在婴幼儿中已有详细描述。在此,我们报告一例被诊断为细胞型先天性中胚层肾瘤(CMN)的婴儿,其BRCA1基因存在种系致病性变异。这一发现具有新颖性,因为BRCA1是一种与成年后发生的乳腺癌、卵巢癌、胰腺癌和前列腺癌相关的癌症易感基因。然而,越来越多的研究表明,种系BRCA1在儿童恶性和良性肿瘤中均有存在。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/47cf/10510949/8eebc8a495a2/cureus-0015-00000043857-i01.jpg

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