Embryonal Rhabdomyosarcoma In a Patient With a Germline CBL Pathogenic Variant

Publication date: Available online 30 December 2018Source: Cancer GeneticsAuthor(s): Jianling Ji, Fariba Navid, Mathew C. Hiemenz, Maki Kaneko, Shengmei Zhou, Sulagna Saitta, Jaclyn A. BiegelAbstractGermline pathogenic variants in CBL are associated with an autosomal dominant RASopathy and an increased risk for malignancies, particularly juvenile myelomonocytic leukemia. Herein, we describe a patient with clinical features of a Noonan-spectrum disorder who developed embryonal rhabdomyosarcoma of the bladder at age two years. Tumor analysis using the OncoKids® cancer panel revealed a CBL pathogenic variant: NM_005188.3:c.1100A>C (p.Gln367Pro). Sanger sequencing of peripheral blood DNA confirmed a de novo heterozygous germline variant. This is the first report of embryonal rhabdomyosarcoma in association with a germline CBL pathogenic variant, further broadening the CBL cancer predisposition spectrum.
Source: Cancer Genetics - Category: Cancer & Oncology Source Type: research