title: High resolution melting analysis for detection of BRAF exon 15 mutations in hairy cell leukaemia and other lymphoid malignancies.
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.
authors.affiliation: Department of Haematology, Haemato-Oncology Diagnostic Service, Addenbrooke's Hospital             Department of Histopathology, Addenbrooke's Hospital, Cambridge, UK.
authors.forename: Elaine M
authors.initials: EM
authors.lastname: Boyd
authors.forename: Anthony J
authors.initials: AJ
authors.lastname: Bench
authors.forename: Mars B
authors.initials: MB
authors.lastname: van 't Veer
authors.forename: Penny
authors.initials: P
authors.lastname: Wright
authors.forename: David M
authors.initials: DM
authors.lastname: Bloxham
authors.forename: George A
authors.initials: GA
authors.lastname: Follows
authors.forename: Mike A
authors.initials: MA
authors.lastname: Scott
mesh_terms: D005091:Exons; D005821:Genetic Techniques; D019073:HT29 Cells; D006801:Humans; D007943:Leukemia, Hairy Cell / Q000235:genetics* / Q000473:pathology*; D008232:Lymphoproliferative Disorders / Q000235:genetics*; D009154:Mutation; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D017422:Sequence Analysis, DNA / Q000379:methods*
chemical_list: C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf