title: Alternative BRAF mutations in BRAF V600E-negative hairy cell leukaemias.
abstract: The BRAF V600E mutation in exon 15 is considered the disease-defining mutation in hairy cell leukaemia (HCL), but single HCL cases lacking this mutation have been described. In 24 HCL, as well as in 194 various mature B- and T-cell neoplasms, we extended the search for BRAF mutations to exon 11. Two V600E-negative HCL contained novel, potentially functionally relevant mutations in exon 11 (F468C and D449E), while one other HCL was BRAF wild-type in exons 2-17. All non-HCL lymphomas lacked BRAF mutations. We therefore suggest screening of BRAF V600E-negative HCL for alternative exon 11 mutations in the diagnostic setting.
authors.affiliation: Institute of Pathology, University of Wuerzburg, Wuerzburg, Germany.
authors.forename: Sebastian
authors.initials: S
authors.lastname: Tschernitz
authors.forename: Lucia
authors.initials: L
authors.lastname: Flossbach
authors.forename: Margrit
authors.initials: M
authors.lastname: Bonengel
authors.forename: Sabine
authors.initials: S
authors.lastname: Roth
authors.forename: Andreas
authors.initials: A
authors.lastname: Rosenwald
authors.forename: Eva
authors.initials: E
authors.lastname: Geissinger
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D007943:Leukemia, Hairy Cell / Q000235:genetics*; D016393:Lymphoma, B-Cell / Q000235:genetics*; D016399:Lymphoma, T-Cell / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D048493:Proto-Oncogene Proteins B-raf / Q000737:chemistry / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D004273:DNA, Neoplasm; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf
keywords: BRAF; alternative mutations; diagnostics; exon 11; hairy cell leukaemia