Embryonal rhabdomyosarcoma in a patient with a germline CBL pathogenic variant.
Cancer Genet
; 231-232: 62-66, 2019 02.
Article
en En
| MEDLINE
| ID: mdl-30803559
ABSTRACT
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® cancer panel revealed a CBL pathogenic variant NM_005188.3c.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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Rabdomiosarcoma Embrionario
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Mutación de Línea Germinal
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Proteínas Proto-Oncogénicas c-cbl
Límite:
Child, preschool
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Humans
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Male
Idioma:
En
Revista:
Cancer Genet
Año:
2019
Tipo del documento:
Article