EVALUATING THE DIAGNOSTIC VALUE OF BRAF – V600E MUTATION DETECTION IN IRANIAN PATIENTS WITH HAIRY CELL LEUKEMIA

BRAF-V600E mutation has recently been considered as a molecular marker in
diagnosis of Hairy Cell Leukemia (HCL). Detection of this mutation has found a diagnostic and
therapeutic value. The aim of the present study was comparing the diagnostic value of BRAF V600E
mutation detection with other previous methods in diagnosis of HCL patients.
Materials & Methods: Detection of BRAF V600E mutation in 17 patients was performed with allelic
discrimination polymerase chain reaction (PCR). The ppatients’ history including results of previous
diagnostic tests such as peripheral blood or bone marrow smears as well as flow cytometry
immunophenotyping were also collected in order to compare the diagnostic value of BRAF V600E
mutation testing with other routine methods in diagnosis of HCL.
Results: Lymphoid cells with hairy-like projections were observed in smears of 14 patients.
Immunophenotyping by flow cytometry for HCL in these patients were reported as “Definitely
Diagnosed” in 9 cases, “Highly Suspicious” in 4 cases and “Suspicious” in 1 case, while BRAF V600E
mutation were detected in all of them. Microscopic and flow cytometric analysis for three remaining
patients ruled out the presence of HCL, which were related with absence of BRAF V600E mutation in
these patients.
Conclusion: Since the results of mutation detection confirmed the final report of two other tests, it can
be concluded that BRAF V600E mutation detection has a high diagnostic value and is an appropriate
confirmation test in this regard