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An extremely rare case of concurrent BRAF V600E mutation driven hairy cell leukemia and melanoma: case report and review of literature
Ghorbani-Aghbolaghi, Amir; Lechpammer, Mirna; Ali, Saba F; Ku, Nam K; Dwyre, Denis M; Rashidi, Hooman H.
  • Ghorbani-Aghbolaghi, Amir; University of California. Davis. Department of Pathology, Laboratory Medicine. Sacramento. US
  • Lechpammer, Mirna; University of California. Davis. Department of Pathology, Laboratory Medicine. Sacramento. US
  • Ali, Saba F; City of Hope National Medical Center. Hematopathology Department. Duarte. US
  • Ku, Nam K; University of California. Davis. Department of Pathology, Laboratory Medicine. Sacramento. US
  • Dwyre, Denis M; University of California. Davis. Department of Pathology, Laboratory Medicine. Sacramento. US
  • Rashidi, Hooman H; University of California. Davis. Department of Pathology, Laboratory Medicine. Sacramento. US
Autops. Case Rep ; 7(3): 13-19, July.-Sept. 2017. ilus
Artigo em Inglês | LILACS | ID: biblio-905311
ABSTRACT
BRAF protein is a serine/threonine kinase with 766 amino acids. Approximately 15% of human cancers harbor BRAF mutations as well as other BRAF anomalies (amplifications, fusions). Somatic mutations mainly occur in the catalytic kinase domain (CR3), and the predominant mutation is p.V600E which is the substitution of glutamic acid (E) for valine (V) as result of a mutation at codon 600 of the kinase domain. To our knowledge, the vast majority of the cancers have non-germline BRAF mutations. Here we describe a case of a 60-year-old female with a history of hairy cell leukemia (HCL) who presented with aphasia and forgetfulness. A follow-up Brain CT scan showed three distinct brain lesions which were found to be diagnostic of melanoma (confirmed by immunohistochemistry) with no evidence of a concurrent brain involvement by a B-cell neoplasm. Molecular studies confirmed the same BRAF p.V600E mutation in both malignancies (hairy cell leukemia and melanoma). Thereafter the patient was started on BRAF inhibitor treatment and is now symptom-free after one year of follow up. Having two concurrent malignancies with a shared BRAF mutation is extremely rare and makes this an excellent example of a genomic marker-driven treatment in two histologically and immunophenotypically distinct tumors.
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Texto completo: DisponíveL Índice: LILACS (Américas) Assunto principal: Leucemia de Células Pilosas / Proteínas Proto-Oncogênicas B-raf / Melanoma Limite: Feminino / Humanos Idioma: Inglês Revista: Autops. Case Rep Assunto da revista: Anatomia / Patologia Cl¡nica / Patologia Legal Ano de publicação: 2017 Tipo de documento: Artigo País de afiliação: Estados Unidos Instituição/País de afiliação: City of Hope National Medical Center/US / University of California/US

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Texto completo: DisponíveL Índice: LILACS (Américas) Assunto principal: Leucemia de Células Pilosas / Proteínas Proto-Oncogênicas B-raf / Melanoma Limite: Feminino / Humanos Idioma: Inglês Revista: Autops. Case Rep Assunto da revista: Anatomia / Patologia Cl¡nica / Patologia Legal Ano de publicação: 2017 Tipo de documento: Artigo País de afiliação: Estados Unidos Instituição/País de afiliação: City of Hope National Medical Center/US / University of California/US