华氏巨球蛋白血症研究进展

Progress of Waldenstrom macroglobulinemia

华氏巨球蛋白血症(WM)是一种少见的以血清单克隆IgM为主要特征的惰性淋巴细胞肿瘤,首发症状多为发热、体质量减轻、血细胞减少或脏器肿大等.IgM型意义未明单克隆免疫球蛋白血症(IgM MGUS)和冒烟型WM(SWM)是疾病的早期阶段.WM治愈率低,但随着对其发病机制研究的深入以及各种新药的研制,患者预后得到显著改善.研究表明90%以上WM患者存在MYD88基因突变.MYD88基因编码是一种衔接蛋白,该蛋白衔接了TLR9和白细胞介素(IL)-6R信号,进而激活核因子(NF)-κB和mTOR的活性.依布替尼(ibrutinib)是首个被批准用于治疗WM的Bruton酪氨酸激酶抑制剂,对MYD88基因突变的WM具有显著疗效.第60届美国血液学会(ASH)年会关于WM的研究涵盖了多个方面,文章主要就第60届ASH会议关于WM的最新研究进行报道.

Waldenstrom macroglobulinemia (WM) is a rare type of indolent lymphoma characterized by serum monoclonal IgM. The first symptoms of WM include fever, loss of body mass, cytopenia or organ enlargement. IgM monoclonal gammopathy of undetermined significance (IgM MGUS) and smoldering WM (SWM) are early stages of WM. As the disease is an indolent B-cell lymphoma with low cure rate, the prognosis of the disease has been significantly improved with the in-depth study of its pathogenesis and the development of various new drugs. The MYD88 gene mutation was found to be present in more than 90% of WM patients. MYD88 gene encodes a bridging protein that connects the TLR9 and interleukin (IL)-6R signals to activate the activity of nuclear factor (NF)-κB and mTOR. Ibrutinib is the first Bruton tyrosine kinase inhibitor approved for WM, and it has a significant effect on WM with MYD88 gene mutation. The research on WM reported in the 60th American Society of Hematology (ASH) Annual Meeting explored many aspects. In this paper, the latest research on WM in the 60th ASH Annual Meeting will be reported.