Dholakia Gayatri, Meade Julia
Public Health, University of Pittsburgh, Pittsburgh, USA.
Pediatrics, University of Pittsburgh Medical Center, Pittsburgh, USA.
Cureus. 2023 Aug 21;15(8):e43857. doi: 10.7759/cureus.43857. eCollection 2023 Aug.
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.
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。
