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Indian J Pathol Microbiol. 2018 Oct-Dec;61(4):532-536. doi: 10.4103/IJPM.IJPM_484_16.

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

Author information

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

Abstract

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

PMID:
30303143
DOI:
10.4103/IJPM.IJPM_484_16
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