Abstract：
Hairy cell leukemia (HCL) is an uncommon B-cell neoplasm uniquely characterized by a high prevalence of the BRAFV600E mutation, which leads to constitutive activation of the mitogen-activated protein kinase (MAPK) pathway.1 In fact, the BRAFV600E point mutation is identified in nearly all cases of HCL; however, it is absent in HCL variant (vHCL) and rare in other B-cell neoplasms.2,3 Notably, in contrast to melanoma or other BRAF mutant solid tumors, HCL exhibits very few other mutations, potentially explaining the high response rates observed in patients treated with mutant BRAF-targeted agents, such as vemurafenib.
摘要：
毛状细胞白血病（HCL）是一种罕见的B细胞肿瘤，其独特特征是BRAFV600E突变的高患病率，这导致丝裂原活化蛋白激酶（MAPK）途径的组成型激活。1事实上，BRAFV600E点突变在几乎所有的HCL病例中都被发现；然而，它在HCL变体（vHCL）中不存在，在其他B细胞肿瘤中很少见2,3值得注意的是，与黑色素瘤或其他BRAF突变实体瘤相反，HCL几乎没有其他突变，可能解释了在用突变BRAF靶向药物治疗的患者中观察到的高反应率，比如vemurafenib.
