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

被引：63

作者：

Boyd, Elaine M. ^{[1
]}

Bench, Anthony J. ^{[1
]}

van't Veer, Mars B. ^{[1
]}

Wright, Penny ^{[2
]}

Bloxham, David M. ^{[1
]}

Follows, George A. ^{[1
]}

Scott, Mike A. ^{[1
]}

机构：

[1] Cambridge Univ Hosp NHS Fdn Trust, Addenbrookes Hosp, Dept Haematol, Haematooncol Diagnost Serv, Cambridge CB2 0QQ, England

[2] Addenbrookes Hosp, Dept Histopathol, Cambridge CB2 2QQ, England

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 2011年 / 155卷 / 05期

关键词：

BRAF mutations; hairy cell leukaemia; myeloma; high resolution melt analysis;

D O I：

10.1111/j.1365-2141.2011.08868.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：609 / 612

页数：4

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