title: Investigation of the BRAF V600E mutation by pyrosequencing in lymphoproliferative disorders.
abstract: The presence of the BRAF c.1799T>A V600E mutation was recently described in cases of hairy cell leukemia (HCL) but not in other common lymphomas. However, many uncommon subtypes of lymphoma have not been studied. We designed a BRAF pyrosequencing assay specific for the V600E mutation, which has a sensitivity of 5% and is applicable to paraffin-embedded tissue. DNA was sequenced in 9 cases of HCL; 6 cases of variant HCL; 10 cases each of nodal marginal zone lymphoma (NMZL), extranodal marginal zone lymphoma (ENMZL), posttransplantation lymphoproliferative disorder (PTLD), and large granular lymphocyte (LGL) proliferations; 11 cases of peripheral T-cell lymphoma (PTCL); and 12 cases of anaplastic large cell lymphoma (ALCL). All (100%) cases of HCL were positive for BRAF mutations. No mutations were identified in variant HCL, NMZL, ENMZL, PTLD, PTCL, ALCL, or LGL proliferations. Among lymphoproliferative disorders, BRAF mutations are restricted to HCL.
authors.affiliation: Dept of Pathology and Microbiology, University of Nebraska Medical Center, Omaha, NE 68195, USA.
authors.forename: Javier A
authors.initials: JA
authors.lastname: Laurini
authors.forename: Patricia
authors.initials: P
authors.lastname: Aoun
authors.forename: Javeed
authors.initials: J
authors.lastname: Iqbal
authors.forename: Wing
authors.initials: W
authors.lastname: Chan
authors.forename: Timothy C
authors.initials: TC
authors.lastname: Greiner
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D004273:DNA, Neoplasm / Q000737:chemistry / Q000235:genetics; D005260:Female; D006801:Humans; D007943:Leukemia, Hairy Cell / Q000235:genetics* / Q000473:pathology; D008232:Lymphoproliferative Disorders / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D017354:Point Mutation / Q000235:genetics*; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D012680:Sensitivity and Specificity; D017422:Sequence Analysis, DNA / Q000379:methods*; D055815:Young Adult
chemical_list: D004273:DNA, Neoplasm; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf