Institute of Pathology, University of Wuerzburg, Wuerzburg, Germany.
Br J Haematol. 2014 May;165(4):529-33. doi: 10.1111/bjh.12735. Epub 2014 Jan 16.
The BRAF V600E mutation in exon 15 is considered the disease-defining mutation in hairy cell leukaemia (HCL), but single HCL cases lacking this mutation have been described. In 24 HCL, as well as in 194 various mature B- and T-cell neoplasms, we extended the search for BRAF mutations to exon 11. Two V600E-negative HCL contained novel, potentially functionally relevant mutations in exon 11 (F468C and D449E), while one other HCL was BRAF wild-type in exons 2-17. All non-HCL lymphomas lacked BRAF mutations. We therefore suggest screening of BRAF V600E-negative HCL for alternative exon 11 mutations in the diagnostic setting.
BRAF V600E 突变位于外显子 15，被认为是毛细胞白血病（HCL）的致病突变，但也有报道称单一 HCL 病例缺乏这种突变。在 24 例 HCL 以及 194 例各种成熟 B 细胞和 T 细胞肿瘤中，我们将 BRAF 突变的搜索范围扩展到了外显子 11。两个 BRAF 阴性的 HCL 在外显子 11 中包含新的、潜在具有功能相关性的突变（F468C 和 D449E），而另一个 HCL 在 2-17 外显子中则为 BRAF 野生型。所有非 HCL 淋巴瘤均缺乏 BRAF 突变。因此，我们建议在诊断时对 BRAF V600E 阴性的 HCL 进行其他外显子 11 突变的筛查。
