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- Title
BRAF V600E mutation detection in hairy cell leukemia-utility of archival DNA from bone marrow aspirate/imprint smear and amplification refractory mutation system.
- Authors
Naseem, Shano; Gupta, Ojas; Binota, Jogeshwar; Varma, Neelam; Varma, Subhash; Malhotra, Pankaj
- Abstract
BRAF V600E is a disease defining mutation for hairy cell leukemia (HCL), which helps in its diagnosis and differentiation from morphologically similar splenic marginal zone lymphoma (SMZL) and HCL-variant (HCL-v). Forty eight cases:HCL(n = 34), SMZL(n = 11) and HCL-v(n = 3) were included. Of these, 32 were retrospective and 16 were prospective. DNA was extracted, in retrospective cases from cells obtained by smears from bone marrow aspirate/trephine imprint (BMA/BMTx) slides, and in prospective cases from peripheral blood (PB)/BMA samples. BRAF V600E mutation testing was done using ARMS-PCR. BRAF V600E mutation was positive in all HCL and negative in all SMZL and HCL-v cases. DNA extracted from BMA/BMTx slides gave results comparable to DNA extracted from PB/BMA samples. Median age of presentation for HCL (53 years) and SMZL (56 years) were quite similar, however, HCL-v (71 years) cases presented at an older age. Statistically significant differences between the three groups were seen for total leucocyte, platelet, absolute lymphocyte and monocyte counts, bone marrow-infiltration pattern, reticulin fibrosis, and an expression of CD11c, CD25, CD103, CD123, and CD200. The use of BMA/BMTx smears for DNA extraction was found to be a useful alternative to DNA extraction from formalin-fixed paraffin-embedded biopsy sections. ARMS-PCR is an efficient and specific technique to detect BRAF V600E mutation in HCL patients.
- Subjects
LYMPHOCYTE count; BONE marrow; DNA; CELL-free DNA; BONES; CELLS
- Publication
Molecular Biology Reports, 2020, Vol 47, Issue 6, p4365
- ISSN
0301-4851
- Publication type
Article
- DOI
10.1007/s11033-020-05509-0