| Literature DB >> 35200227 |
Rozalyn L Rodwin1, Sanyukta K Janardan1,2, Erin W Hofstatter3,4, Nina S Kadan-Lottick1,4.
Abstract
Childhood cancer survivors are at risk for subsequent neoplasms. We describe the clinical presentation and genetic testing of a 29-year-old woman diagnosed with a pheochromocytoma 22 years post-treatment for childhood embryonal rhabdomyosarcoma of the bladder. Genetic testing for cancer predisposition revealed a pathogenic variant in BRCA2 and a variant of uncertain significance in MSH2. Pathogenic variants associated with deafness were also identified in GJB2. This article reports a novel subsequent neoplasm following childhood embryonal rhabdomyosarcoma, and discusses the potential contribution of genetic cancer predisposition to this case as well as the clinical implications of genetic testing.Entities:
Mesh:
Year: 2022 PMID: 35200227 PMCID: PMC8873988 DOI: 10.1097/MPH.0000000000002270
Source DB: PubMed Journal: J Pediatr Hematol Oncol ISSN: 1077-4114 Impact factor: 1.170