بررسی ارزش تشخیصی ردیابی جهشBRAF V600Eدربیماران ایرانی مبتلابه لوسمی سلول مویی

Abstract Background & Aims: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 flowcytometry 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 projectionswere 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. SOURCE: URMIA MED J 2016: 26(10): 889 ISSN: 1027-3727