MYD88^L265P及CXCR4^WHIM基因突变在华氏巨球蛋白血症中的意义

Significances of MYD88^(L265P) and CXCR4^(WHIM) Mutations in Waldenstrom Macroglobulinemia

华氏巨球蛋白血症是一种以分泌单克隆免疫球蛋白M为特征的淋巴浆细胞淋巴瘤。MYD88^(L265P)和CXCR4^(WHIM)两种体细胞突变在华氏巨球蛋白血症患者中存在较高的突变率,且突变情况与靶向药物的疗效相关。本文主要综述MYD88^(L265P)及CXCR4^(WHIM)基因突变在华氏巨球蛋白血症诊断和治疗中的意义。

Waldenstrom macroglobulinemia（WM） is a lymphoplasmacytic lymphoma characterized by serum monoclonal IgM immunoglobulin.Recently,the high mutation rates of MYD88^L265P and CXCR4^WHIM have been documented in WM.Furthermore,MYD88^L265P and CXCR4^WHIM are related to the response to target drugs.This article reviews the significances of MYD88^L265P and CXCR4^WHIM in the diagnosis and treatment of WM.