Indian Journal of Pathology and Microbiology
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Year : 2015  |  Volume : 58  |  Issue : 1  |  Page : 62-65

V-raf murine sarcoma viral oncogene homolog B (BRAF) mutations in hairy cell leukaemia

1 Department of Haematology, Christian Medical College, Vellore, Tamil Nadu, India
2 Department of Pathology, Christian Medical College, Vellore, Tamil Nadu, India
3 Department of Immunohaematology and Transfusion Medicine, Christian Medical College, Vellore, Tamil Nadu, India

Correspondence Address:
Dr. Neeraj Arora
Department of Laboratory Haematology and Molecular Genetics, TATA Medical Center, Kolkata, West Bengal
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Source of Support: This study was supported by an intramural grant from Christian Medical College, Vellore IRB Min no 7932 dated 02.08.2012., Conflict of Interest: None

DOI: 10.4103/0377-4929.151190

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Introduction: 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. Aim: 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. Materials and 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.

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