Correlation of BRAF V600E Mutation in Peripheral Blood Smears of Hairy Cell Leukemia with Morphology and Immunophenotyping
Journal Title: International Journal of Medical Research & Health Sciences (IJMRHS) - Year 2017, Vol 6, Issue 11
Abstract
Hairy cell leukemia being defned as a mature B-cell lymphoma shows unique clinicopathological, immunophenotype, and genetic alteration features among another mature B-cell malignancy. Although lymphocytes with hairy appearance and co-expression of CD25, CD11c and CD103 markers on B-cells are compatible with hairy cell leukemia, there are some diffculties in differential diagnosis between HCL with its variant and splenic marginal zone lymphoma. The presence of kinase-activating BRAF V600E mutation in classical HCL clone and in no other mature B-cell lymphomas/ leukemia has implication in differential diagnosis. In this study, we evaluated BRAF V600E mutation detection of H&E stained peripheral blood smears by Sanger sequencing method in patients with classical HCL and fndings related to morphology and immunophenotype. Peripheral smear review indicated a subpopulation of atypical lymphocytes with villous cytoplasmic projections. By flow cytometry analysis, B-cells represented immunophenotype of CD19+ CD20(bright)+ CD11c+ CD25+ CD103+. Sanger sequencing demonstrated that presence of BRAF V600E mutation in 86.6% (13/15) of analyzed HCL DNA. Hence, gain-of-function mutation of BRAF V600E is detectable in DNA of peripheral blood smear of patients with classical HCL that were evaluated by immunophenotyping. In conclusion, DNA from peripheral blood smear can be used to identify BRAF V600E mutation using Sanger sequencing method in samples with at least 10% HCL clone as supplementary approach to aid in the diagnosis of classical HCL.
Authors and Affiliations
Narges Jafarzadeh| Razavi Cancer Research Center, Razavi Hospital, Imam Reza International University, Mashhad, Iran, Kamran Ghaffarzadehgan| Razavi Cancer Research Center, Razavi Hospital, Imam Reza International University, Mashhad, Iran, Reza Ziaolhagh| Razavi Cancer Research Center, Razavi Hospital, Imam Reza International University, Mashhad, Iran, Hossein Rahimi| Razavi Cancer Research Center, Razavi Hospital, Imam Reza International University, Mashhad, Iran, Hematology and Oncology Department, Ghaem Hospital, Medical School, Mashhad University of Medical Sciences, Mashhad, Iran, Arash Faal| Razavi Cancer Research Center, Razavi Hospital, Imam Reza International University, Mashhad, Iran, Maryam Jafari-Rad| Razavi Cancer Research Center, Razavi Hospital, Imam Reza International University, Mashhad, Iran, Hamid R Hashemian| Razavi Cancer Research Center, Razavi Hospital, Imam Reza International University, Mashhad, Iran, Farid Farrokhi| Razavi Cancer Research Center, Razavi Hospital, Imam Reza International University, Mashhad, Iran, Corresponding e-mail: Farid.farrokhi@gmail.com
Keywords
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