高分辨率熔解曲线分析法检测毛细胞白血病BRAF基因突变

Detection of BRAF V600E mutation in hairy cell leukemia by high-resolution melting analysis

目的探讨高分辨率熔解曲线分析（HRM）法检测毛细胞白血病（HCL）患者BRAFV600E基因突变的可行性及其意义。方法用HRM法检测4例初治确诊HCL患者BRAFV600E基因突变情况，并回顾性分析患者临床资料。结果HRM法分析4例HCL患者均发生BRAFV600E突变。测序结果与HRM分析结果一致。结论用HRM法检测临床样本BRAFV600E基因突变，具有操作简便、结果准确、成本低的优点，可用于临床辅助诊断。

Objective To explore the feasibility and diagnostic implication of BRAF V600E mutation identified by high-resolution melting （HRM） assay in patients with hairy cell leukemia （HCL）. Methods The V600E mutation of BRAF exon 15 in four HCL patients were detected by HRM assay and patients＇ clinical data were retrospectively analyzed. Results All four HCL patients were positive for the BRAF V600E mutation, which were identical to the results of DNA sequencing. Conclusion The HRM assay for BRAF V600E mutation provides a useful tool to aid the laboratory diagnosis of HCL with easy operability, accuracy, and low cost.