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

Autor: Blackburn PR; Department of Pathology, St Jude Children's Research Hospital, Memphis, Tennessee, USA., McGee RB; Division of Cancer Predisposition, St Jude Children's Research Hospital, Memphis, Tennessee, USA., Mostafavi R; Division of Cancer Predisposition, St Jude Children's Research Hospital, Memphis, Tennessee, USA., Carroll AJ; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Mikhail FM; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Armstrong GT; Department of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.; Department of Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Furtado LV; Department of Pathology, St Jude Children's Research Hospital, Memphis, Tennessee, USA., Chiang J; Department of Pathology, St Jude Children's Research Hospital, Memphis, Tennessee, USA., Wheeler DA; Department of Computational Biology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Carey SS; Department of Hospitalist Medicine, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Nichols KE; Division of Cancer Predisposition, St Jude Children's Research Hospital, Memphis, Tennessee, USA.; Department of Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Upadhyaya SA; Department of Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.; Department of Pediatrics, University of Tennessee Health Science Center, Memphis, Tennessee, USA.
Jazyk: angličtina
Zdroj: Genes, chromosomes & cancer [Genes Chromosomes Cancer] 2024 Jan; Vol. 63 (1), pp. e23195. Date of Electronic Publication: 2023 Aug 07.
DOI: 10.1002/gcc.23195
Abstrakt: 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.
(© 2023 Wiley Periodicals LLC.)
Databáze: MEDLINE
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