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High resolution melting analysis for detection of BRAF exon 15 mutations in hairy cell leukaemia and other lymphoid malignancies

2011; Wiley; Volume: 155; Issue: 5 Linguagem: Inglês

10.1111/j.1365-2141.2011.08868.x

1365-2141

Elaine Boyd, Anthony J. Bench, Mars B. van ’t Veer, Penny Wright, David Bloxham, George Follows, Mike Scott,

T-cell and B-cell Immunology

The BRAF V600E mutation has recently been described in all cases of hairy cell leukaemia (HCL). We have developed and validated a rapid and sensitive high-resolution melting analysis (HRMA) assay that detects BRAF exon 15 mutations when hairy cells are as low as 5-10% in a sample. All 48 HCL patients were positive for the BRAF V600E mutation, while 114 non-HCL cases were all V600E negative. Interestingly, we detected a novel BRAF D594N mutation in one patient with multiple myeloma. The HRMA assay offers a useful tool to aid the laboratory diagnosis of HCL.