title: V-raf murine sarcoma viral oncogene homolog B (BRAF) mutations in hairy cell leukaemia.
abstract: BACKGROUND
  Hairy cell leukemia (HCL) is a B-cell non-Hodgkin lymphoma with distinct clinical, morphological and immunophenotypic features; however, there are many other B-cell lymphomas, which closely mimic HCL. Accurate diagnosis of HCL is important as treatment with 2-chloro-2'-deoxyadenosine (cladribine) is associated with >80% chance of complete cure. The recent description of BRAF p.V600E mutations in almost all HCL cases in various studies has not only improved the pathogenetic understanding of this entity but also increased the diagnostic accuracy of this disorder.
  
  
  OBJECTIVE
  The aim of the study was to standardize a molecular test for diagnosis of HCL and compare with standard established morphological, cytochemical and immunophenotypic parameters for HCL diagnosis.
  
  
  METHODS
  The incidence of this mutation was sought in 20 patients with either classical HCL or HCL variant (HCLv) by Sanger sequencing and allele-specific polymerase chain reaction. BRAF p.V600E mutation was present in all HCL cases and absent in the only HCLv case.
  
  
  RESULTS
  A high degree of correlation was noted between the presence of BRAF p.V600E and established diagnostic criteria in 20/20 patients with HCL/HCLv. Our data supports the observation that this mutation is present in all cases of HCL and is absent in HCLv. Hence, detection of the BRAF p. V600E mutation can be a useful adjunct in the diagnostic algorithm.
authors: Department of Haematology, Christian Medical College, Vellore, Tamil Nadu, India.
authors: Neeraj
authors: N
authors: Arora
authors: Sheila
authors: S
authors: Nair
authors: Rekha
authors: R
authors: Pai
authors: Sukesh
authors: S
authors: Nair
authors: Rayaz
authors: R
authors: Ahmed
authors: Aby
authors: A
authors: Abraham
authors: Auro
authors: A
authors: Viswabandya
authors: Biju
authors: B
authors: George
authors: Poonkuzhali
authors: P
authors: Balasubramanian
authors: Alok
authors: A
authors: Srivastava
authors: Vikram
authors: V
authors: Mathews
mesh_terms: D000328:Adult; D000368:Aged; D000818:Animals; D005260:Female; D006801:Humans; D007943:Leukemia, Hairy Cell / Q000175:diagnosis* / Q000473:pathology*; D008297:Male; D051379:Mice; D008875:Middle Aged; D025202:Molecular Diagnostic Techniques / Q000379:methods*; D020125:Mutation, Missense; D057089:Pathology, Molecular / Q000379:methods*; D016133:Polymerase Chain Reaction; D011446:Prospective Studies; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D012189:Retrospective Studies; D017422:Sequence Analysis, DNA
chemical_list: C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf