Institute of Hematology, University of Perugia, Perugia, Italy.
Blood. 2012 Jan 5;119(1):192-5. doi: 10.1182/blood-2011-08-371179. Epub 2011 Oct 25.
Hairy cell leukemia (HCL) is a distinct clinicopathologic entity that responds well to purine analogs but is sometimes difficult to differentiate from HCL-like disorders (e.g., splenic marginal zone lymphoma and HCL variant). We recently identified the BRAF-V600E mutation as the disease-defining genetic event in HCL. In this study, we describe a new, simple, and inexpensive test for genetics-based diagnosis of HCL in whole-blood samples that detects BRAF-V600E through a sensitive allele-specific PCR qualitative assay followed by agarose-gel electrophoresis. This approach detected BRAF-V600E in all 123 leukemic HCL samples investigated containing as few as 0.1% leukemic cells. BRAF-V600E was detected at different time points during the disease course, even after therapy, pointing to its pivotal role in HCL pathogenesis and maintenance of the leukemic clone. Conversely, 115 non-HCL chronic B-cell neoplasms, including 79 HCL-like disorders, were invariably negative for BRAF-V600E. This molecular assay is a powerful tool for improving the diagnostic accuracy in HCL.
毛细胞白血病（HCL）是一种独特的临床病理实体，对嘌呤类似物反应良好，但有时难以与 HCL 样疾病（如脾边缘区淋巴瘤和 HCL 变体）区分。我们最近发现 BRAF-V600E 突变是 HCL 的疾病定义性遗传事件。在这项研究中，我们描述了一种新的、简单且廉价的全血样本基于遗传学诊断 HCL 的方法，该方法通过灵敏的等位基因特异性 PCR 定性检测检测 BRAF-V600E，然后进行琼脂糖凝胶电泳。该方法在 123 例含有低至 0.1%白血病细胞的白血病 HCL 样本中均检测到 BRAF-V600E。在疾病过程中的不同时间点，甚至在治疗后，均检测到 BRAF-V600E，表明其在 HCL 发病机制和白血病克隆维持中起关键作用。相反，115 例非 HCL 慢性 B 细胞肿瘤，包括 79 例 HCL 样疾病，均始终为 BRAF-V600E 阴性。这种分子检测方法是提高 HCL 诊断准确性的有力工具。
