Constitutional balanced translocations involving SMARCB1: A rare cause of rhabdoid tumor predisposition syndrome

SMARCB1型 非典型畸胎样横纹肌瘤 先证者 生殖系 基因检测 家族史 医学 脑瘤 髓母细胞瘤 遗传学 生物信息学 突变 生物 癌症研究 内科学 病理 基因 表观遗传学 染色质重塑
作者
Patrick R. Blackburn,Rose B. McGee,Roya Mostafavi,Andrew J. Carroll,Fady M. Mikhail,Gregory T. Armstrong,Larissa V. Furtado,Jason Chiang,David A. Wheeler,Steven S. Carey,Kim E. Nichols,Santhosh A. Upadhyaya
出处
期刊:Genes, Chromosomes and Cancer [Wiley]
卷期号:63 (1)
标识
DOI:10.1002/gcc.23195
摘要

Abstract Rhabdoid Tumor Predisposition Syndrome 1 (RTPS1) confers an increased risk of developing rhabdoid tumors and is caused by germline mutations in SMARCB1 . RTPS1 should be evaluated in all individuals with rhabdoid tumor and is more likely in those with a young age at presentation (occasionally congenital presentation), multiple primary tumors, or a family history of rhabdoid tumor or RTPS1. Proband genetic testing is the standard method for diagnosing RTPS1. Most known RTPS1‐related SMARCB1 gene mutations are copy number variants (CNVs) or single nucleotide variants/indels, but structural variant analysis (SVA) is not usually included in the molecular evaluation. Here, we report two children with RTPS1 presenting with atypical teratoid/rhabdoid tumor (ATRT) who had constitutional testing showing balanced chromosome translocations involving SMARCB1 . Patient 1 is a 23‐year‐old female diagnosed with pineal region ATRT at 7 months who was found to have a de novo , constitutional t(16;22)(p13.3;q11.2). Patient 2 is a 24‐month‐old male diagnosed with a posterior fossa ATRT at 14 months, with subsequent testing showing a constitutional t(5;22)(q14.1;q11.23). These structural rearrangements have not been previously reported in RTPS1. While rare, these cases suggest that structural variants should be considered in the evaluation of children with rhabdoid tumors to provide more accurate genetic counseling on the risks of developing tumors, the need for surveillance, and the risks of passing the disorder on to future children. Further research is needed to understand the prevalence, clinical features, and tumor risks associated with RTPS1‐related constitutional balanced translocations.
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