Embryonal rhabdomyosarcoma in a patient with a germline CBL pathogenic variant.
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ABSTRACT:
SUBMITTER: Ji J
PROVIDER: S-EPMC7528629 | biostudies-literature | 2019 Feb
REPOSITORIES: biostudies-literature
Publications
Embryonal rhabdomyosarcoma in a patient with a germline CBL pathogenic variant.
Ji Jianling J Navid Fariba F Hiemenz Mathew C MC Kaneko Maki M Zhou Shengmei S Saitta Sulagna C SC Biegel Jaclyn A JA
Cancer genetics 20181230
Germline 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<sup>®</sup> cancer panel revealed a CBL pathogenic variant: NM_005188.3:c.1100A>C (p.Gln367Pro). Sanger sequencing of peripheral blood ...[more]
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