BRAFV600E mutation in hairy cell leukemia: A single-center experience

Background: BRAFV600E mutation has been reported as a unique genetic lesion of hairy cell leukemia (HCL), a subset of which lacks this lesion and shows adverse outcomes. Aims: To determine the prevalence of BRAFV600E in HCL from our center and derive clinicopathological correlation, if any. Materials and Methods: A 9-year retrospective analysis of 46 consecutive cases of HCL diagnosed on morphology and immunophenotyping was done. Stained smears were used as samples for amplification refractory mutation system polymerase-chain reaction using fluorescent primers for mutation detection. Results: BRAFV600E mutation was detected in 41/46 patients (89.1%) while absent in control samples of chronic lymphocytic leukemia. Cases mimicking HCL-variant clinically or immunophenotypically too showed the presence of this mutation. HCL with mutated BRAF presented at a younger age. No statistical difference in blood counts, tumor load, and immunophenotype patterns existed among BRAF mutated and unmutated group. Nine patients (45%) with mutated BRAF had residual disease following treatment with cladribine. Conclusion: BRAFV600E mutation analysis has a definitive role in the diagnosis of HCL.

Keywords

Amplification refractory mutation system-polymerase chain reaction, BRAFV600E, hairy cell leukemia

Citation

Bibi A, Java S, Chaudhary S, Joshi S, Mascerhenas R, Rabade N, Tembhare P, Subramanian PG, Gujral S, Menon H, Khattry N, Sengar M, Bagal B, Jain H, Patkar N. BRAFV600E mutation in hairy cell leukemia: A single-center experience. Indian Journal of Pathology and Microbiology. 2018 Dec; 61(4): 532-536

URI

https://imsear.searo.who.int/handle/123456789/196245

Collections

Indian Journal of Pathology & Microbiology

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