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

Elaine M Boyd; Anthony J Bench; Mars B van 't Veer; Penny Wright; David M Bloxham; George A Follows; Mike A Scott

doi:10.1111/j.1365-2141.2011.08868.x

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

Br J Haematol. 2011 Dec;155(5):609-12. doi: 10.1111/j.1365-2141.2011.08868.x. Epub 2011 Sep 13.

Authors

Elaine M Boyd¹, Anthony J Bench, Mars B van 't Veer, Penny Wright, David M Bloxham, George A Follows, Mike A Scott

Affiliation

¹ Department of Haematology, Haemato-Oncology Diagnostic Service, Addenbrooke's Hospital Department of Histopathology, Addenbrooke's Hospital, Cambridge, UK.

PMID: 21910720
DOI: 10.1111/j.1365-2141.2011.08868.x

Abstract

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.

MeSH terms

Exons*
Genetic Techniques
HT29 Cells
Humans
Leukemia, Hairy Cell / genetics*
Leukemia, Hairy Cell / pathology*
Lymphoproliferative Disorders / genetics*
Mutation*
Proto-Oncogene Proteins B-raf / genetics*
Sequence Analysis, DNA / methods*

Substances

BRAF protein, human
Proto-Oncogene Proteins B-raf