Laboratoire d'Hématologie, CHU Caen Normandie, Caen, France.
Institut bas Normand d'Hématologie, CHU Caen Normandie, Caen, France.
J Cell Mol Med. 2023 Sep;27(17):2626-2630. doi: 10.1111/jcmm.17890. Epub 2023 Aug 2.
Hairy cell leukaemia (HCL) diagnosis is based on the morphologic detection of circulating abnormal hairy cells in the peripheral blood and/or bone marrow, an HCL immunological score of 3 or 4 based on the expression of the CD11c, CD25, CD103 and CD123 and also the presence of a BRAF V600E activating mutation in the B-raf proto-oncogene (BRAF gene) (7q34). When using new generation sequencing of 21 targeted genes in 124 HCL patients, we identified a cohort of 6/124 (2%) patients with unusual BRAF mutations: two patients presented non-V600 mutations (BRAF F595L, BRAF W604L respectively) and four other patients silent BRAF mutations. When using droplet digital PCR (ddPCR) three of the four patients with concomitant BRAF V600E and silent mutation were negative. The respective role of these mutations in the occurrence of HCL or its progression remains to be clarified, but BRAF sequencing is necessary in case of negative BRAF V600E by ddPCR.
毛细胞白血病（HCL）的诊断基于在外周血和/或骨髓中循环异常毛细胞的形态学检测，根据 CD11c、CD25、CD103 和 CD123 的表达，HCL 免疫评分 3 或 4，以及 B-raf 原癌基因（BRAF 基因）（7q34）中 BRAF V600E 激活突变的存在。当对 124 例 HCL 患者的 21 个靶向基因进行新一代测序时，我们鉴定出了 6/124（2%）例具有异常 BRAF 突变的患者：两名患者分别出现非 V600 突变（BRAF F595L、BRAF W604L），另外四名患者为沉默 BRAF 突变。当使用液滴数字 PCR（ddPCR）时，伴有 BRAF V600E 和沉默突变的四名患者中的三位为阴性。这些突变在 HCL 的发生或进展中的作用尚不清楚，但如果 ddPCR 检测到 BRAF V600E 阴性，则需要进行 BRAF 测序。
