title: The BRAF V600E mutation in hairy cell leukemia and other mature B-cell neoplasms.
abstract: The somatically acquired V600E mutation of the BRAF gene has been recently described as a molecular marker of hairy cell leukemia (HCL). We developed an allele-specific PCR for this mutation and studied 62 patients with HCL, 1 with HCL variant, 91 with splenic marginal zone lymphoma, 29 with Waldenström macroglobulinemia, and 57 with B-cell chronic lymphoproliferative disorders. The BRAF V600E mutation was detected in all HCL cases and in only 2 of the remaining 178 patients. These 2 subjects had B-cell chronic lymphoproliferative disorders that did not fulfill the diagnostic criteria for HCL. Despite the positive PCR finding, the mutation could not be detected by Sanger sequencing in these 2 cases, suggesting that it was associated with a small subclone. We conclude that the BRAF V600E mutation is present in all patients with HCL and that, in combination with clinical and morphologic features, represents a reliable molecular marker for this condition.
authors.affiliation: Departments of Hematology Oncology, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo & University of Pavia, Pavia, Italy. luca.arcaini@unipv.it
authors.forename: Luca
authors.initials: L
authors.lastname: Arcaini
authors.forename: Silvia
authors.initials: S
authors.lastname: Zibellini
authors.forename: Emanuela
authors.initials: E
authors.lastname: Boveri
authors.forename: Roberta
authors.initials: R
authors.lastname: Riboni
authors.forename: Sara
authors.initials: S
authors.lastname: Rattotti
authors.forename: Marzia
authors.initials: M
authors.lastname: Varettoni
authors.forename: Maria Luisa
authors.initials: ML
authors.lastname: Guerrera
authors.forename: Marco
authors.initials: M
authors.lastname: Lucioni
authors.forename: Annamaria
authors.initials: A
authors.lastname: Tenore
authors.forename: Michele
authors.initials: M
authors.lastname: Merli
authors.forename: Silvia
authors.initials: S
authors.lastname: Rizzi
authors.forename: Lucia
authors.initials: L
authors.lastname: Morello
authors.forename: Chiara
authors.initials: C
authors.lastname: Cavalloni
authors.forename: Matteo C
authors.initials: MC
authors.lastname: Da Vià
authors.forename: Marco
authors.initials: M
authors.lastname: Paulli
authors.forename: Mario
authors.initials: M
authors.lastname: Cazzola
mesh_terms: D000328:Adult; D004273:DNA, Neoplasm / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D015448:Leukemia, B-Cell / Q000235:genetics* / Q000473:pathology; D007943:Leukemia, Hairy Cell / Q000235:genetics* / Q000473:pathology; D016393:Lymphoma, B-Cell / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*
chemical_list: D004273:DNA, Neoplasm; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf