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High resolution melting analysis for detection of BRAF exon 15 mutations in hairy cell leukaemia and other lymphoid malignancies
Author(s) -
Boyd Elaine M.,
Bench Anthony J.,
van ‘t Veer Mars B.,
Wright Penny,
Bloxham David M.,
Follows George A.,
Scott Mike A.
Publication year - 2011
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.2011.08868.x
Subject(s) - high resolution melt , mutation , exon , mutation testing , cancer research , multiple myeloma , microbiology and biotechnology , medicine , biology , immunology , polymerase chain reaction , gene , genetics
Summary 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.