High resolution melting analysis for detection of BRAF exon 15 mutations in hairy cell leukaemia and other lymphoid malignancies
Elaine M. Boyd
Department of Haematology, Haemato-Oncology Diagnostic Service, Addenbrooke’s Hospital
Search for more papers by this authorAnthony J. Bench
Department of Haematology, Haemato-Oncology Diagnostic Service, Addenbrooke’s Hospital
Search for more papers by this authorMars B. van ‘t Veer
Department of Haematology, Haemato-Oncology Diagnostic Service, Addenbrooke’s Hospital
Search for more papers by this authorPenny Wright
Department of Histopathology, Addenbrooke’s Hospital, Cambridge, UK
Search for more papers by this authorDavid M. Bloxham
Department of Haematology, Haemato-Oncology Diagnostic Service, Addenbrooke’s Hospital
Search for more papers by this authorGeorge A. Follows
Department of Haematology, Haemato-Oncology Diagnostic Service, Addenbrooke’s Hospital
Search for more papers by this authorMike A. Scott
Department of Haematology, Haemato-Oncology Diagnostic Service, Addenbrooke’s Hospital
Search for more papers by this authorElaine M. Boyd
Department of Haematology, Haemato-Oncology Diagnostic Service, Addenbrooke’s Hospital
Search for more papers by this authorAnthony J. Bench
Department of Haematology, Haemato-Oncology Diagnostic Service, Addenbrooke’s Hospital
Search for more papers by this authorMars B. van ‘t Veer
Department of Haematology, Haemato-Oncology Diagnostic Service, Addenbrooke’s Hospital
Search for more papers by this authorPenny Wright
Department of Histopathology, Addenbrooke’s Hospital, Cambridge, UK
Search for more papers by this authorDavid M. Bloxham
Department of Haematology, Haemato-Oncology Diagnostic Service, Addenbrooke’s Hospital
Search for more papers by this authorGeorge A. Follows
Department of Haematology, Haemato-Oncology Diagnostic Service, Addenbrooke’s Hospital
Search for more papers by this authorMike A. Scott
Department of Haematology, Haemato-Oncology Diagnostic Service, Addenbrooke’s Hospital
Search for more papers by this authorSummary
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.
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