Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Naomi St. Facility (NAO1.053a), 1515 Holcombe Blvd, Unit 0149, Houston, TX 77030, USA.
Am J Clin Pathol. 2012 Jul;138(1):153-6. doi: 10.1309/AJCPL0OPXI9LZITV.
BRAF protooncogene is an important mediator of cell proliferation and survival signals. BRAF p.V600E mutation was recently described as a molecular marker of hairy cell leukemia (HCL). We developed and validated a pyrosequencing-based approach that covers BRAF mutational hotspots in exons 11 (codon 468) and 15 (codons 595 to 600). The assay detects BRAF mutations at an analytical sensitivity of 5%. We screened 16 unenriched archived bone marrow aspirate samples from patients with a diagnosis of HCL (n = 12) and hairy cell leukemia-variant (HCL-v) (n = 4) using pyrosequencing. BRAF p.V600E mutation was present in all HCL cases and absent in all HCL-v. Our data support the recent finding that BRAF p.V600E mutation is universally present in HCL. Moreover, our pyrosequencing-based assay provides a convenient, rapid, sensitive, and quantitative tool for the detection of BRAF p.V600E mutations in HCL for clinical diagnostic testing.
BRAF 原癌基因是细胞增殖和存活信号的重要介质。BRAF p.V600E 突变最近被描述为毛细胞白血病 (HCL) 的分子标志物。我们开发并验证了一种基于焦磷酸测序的方法，该方法可覆盖外显子 11（密码子 468）和 15（密码子 595 至 600）中的 BRAF 突变热点。该检测方法的分析灵敏度为 5%，可检测 BRAF 突变。我们使用焦磷酸测序对 16 例未经富集的存档骨髓抽吸样本进行了筛选，这些样本来自诊断为 HCL（n=12）和毛细胞白血病变异型（HCL-v）（n=4）的患者。BRAF p.V600E 突变存在于所有 HCL 病例中，而不存在于所有 HCL-v 病例中。我们的数据支持最近的发现，即 BRAF p.V600E 突变普遍存在于 HCL 中。此外，我们的基于焦磷酸测序的检测方法为 HCL 中 BRAF p.V600E 突变的临床诊断检测提供了一种方便、快速、敏感和定量的工具。
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