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Embryonal rhabdomyosarcoma in a patient with a germline CBL pathogenic variant.
Ji, Jianling; Navid, Fariba; Hiemenz, Mathew C; Kaneko, Maki; Zhou, Shengmei; Saitta, Sulagna C; Biegel, Jaclyn A.
Afiliación
  • Ji J; Department of Pathology & Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA; Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA. Electronic address: jji@chla.usc.edu.
  • Navid F; Hematology, Oncology and Blood and Marrow Transplantation, Children's Hospital Los Angeles, Los Angeles, CA, USA; Department of Pediatrics, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
  • Hiemenz MC; Department of Pathology & Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA; Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
  • Kaneko M; Department of Pathology & Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA.
  • Zhou S; Department of Pathology & Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA; Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
  • Saitta SC; Department of Pathology & Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA; Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
  • Biegel JA; Department of Pathology & Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA; Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Rabdomiosarcoma Embrionario / Mutación de Línea Germinal / Proteínas Proto-Oncogénicas c-cbl Límite: Child, preschool / Humans / Male Idioma: En Revista: Cancer Genet Año: 2019 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Rabdomiosarcoma Embrionario / Mutación de Línea Germinal / Proteínas Proto-Oncogénicas c-cbl Límite: Child, preschool / Humans / Male Idioma: En Revista: Cancer Genet Año: 2019 Tipo del documento: Article