Non-canonical BRAF variants and rearrangements in hairy cell leukemia  

作　　者：STEPHEN E.LANGABEER 

机构地区：[1]Cancer Molecular Diagnostics,St.James’s Hospital,Dublin,D08 W9RT,Ireland

出　　处：《Oncology Research》2024年第9期1423-1427,共5页肿瘤学研究（英文）

摘　　要：Hairy cell leukemia(HCL)is an uncommon mature B-cell malignancy characterized by a typical morphology,immunophenotype,and clinical profile.The vast majority of HCL patients harbor the canonical BRAF V600E mutation which has become a rationalized target of the subsequently deregulated RAS-RAF-MEK-MAPK signaling pathway in HCL patients who have relapsed or who are refractory to front-line therapy.However,several HCL patients with a classical phenotype display non-canonical BRAF mutations or rearrangements.These include sequence variants within alternative exons and an oncogenic fusion with the IGH gene.Care must be taken in the molecular diagnostic work-up of patients with typical HCL but without the BRAF V600E to include investigation of these uncommon mechanisms.Identification,functional characterization,and reporting of further such patients is likely to provide insights into the pathogenesis of HCL and enable rational selection of targeted inhibitors in such patients if required.

关 键 词：Hairy cell leukemia BRAF Molecular diagnostics Targeted therapy 

分 类 号：R733.7[医药卫生—肿瘤]