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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
Article in English | 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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Full text: Available Index: LILACS (Americas) Main subject: Leukemia, Hairy Cell / Proto-Oncogene Proteins B-raf / Melanoma Limits: Female / Humans Language: English Journal: Autops. Case Rep Journal subject: Anatomia / Patologia Cl¡nica / Patologia Legal Year: 2017 Type: Article Affiliation country: United States Institution/Affiliation country: City of Hope National Medical Center/US / University of California/US

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Full text: Available Index: LILACS (Americas) Main subject: Leukemia, Hairy Cell / Proto-Oncogene Proteins B-raf / Melanoma Limits: Female / Humans Language: English Journal: Autops. Case Rep Journal subject: Anatomia / Patologia Cl¡nica / Patologia Legal Year: 2017 Type: Article Affiliation country: United States Institution/Affiliation country: City of Hope National Medical Center/US / University of California/US