Indian Journal of Pathology and Microbiology
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Year : 2018  |  Volume : 61  |  Issue : 4  |  Page : 532-536

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

1 Tata Memorial Centre, Hematopathology Laboratory, Mumbai, Maharashtra, India
2 Molecular Division, Tata Memorial Centre, Hematopathology Laboratory, Mumbai, Maharashtra, India

Correspondence Address:
Nikhil Patkar
Molecular Division, Tata Memorial Centre, Hematopathology Laboratory, KS-231, Khanolkar Shodika, ACTREC, Mumbai - 410 210, Maharashtra
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/IJPM.IJPM_484_16

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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.

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