多发性骨髓瘤患者细胞遗传学改变临床意义的研究进展

Research progress of clinical significance of cytogenetic alteration in patients with multiple myeloma

多发性骨髓瘤(MM)是一种以骨髓微环境中恶性浆细胞克隆性增殖、外周血和(或)尿中出现单克隆蛋白及相关器官功能障碍为特征的肿瘤性浆细胞疾病,患者病死率约为2%。虽然蛋白酶体抑制剂、免疫调节剂、组蛋白去乙酰化酶抑制剂等新型药物及造血干细胞移植(HSCT)等新治疗方法,改善了MM患者的生存。但是,MM目前仍无法治愈。2014年,国际骨髓瘤工作组(IMWG)将细胞遗传学改变纳入MM的诊断标准中,并将伴del(17p)、t(4;14)及t(14;16)者归为高危组,但即便是同一危险度分层的MM患者预后仍存在差异。因此,更加准确的危险度分层指标有助于更好地指导MM患者的个体化及精准化治疗。笔者拟就MM患者原发性及继发性细胞遗传学改变临床意义的研究进展进行综述。

Multiple myeloma(MM)is a neoplastic plasma cell disease characterized by clonal proliferation of malignant plasma cells in the bone marrow microenvironment,monoclonal proteins in peripheral blood and(or)urine,and related organ dysfunction.Fatality rate of MM patients is approximately 2%.Although new drugs(proteasome inhibitors,immunomodulators,histone deacetylase inhibitors,etc.)and new treatment methods,such as hematopoietic stem cell transplantation(HSCT)have improved the survival of MM patients,but MM is still incurable.In 2014,the International Myeloma Working Group(IMWG)incorporates cytogenetic alteration into diagnostic criteria for MM and classifies those with del(17p),t(4;14),and t(14;16)as a high-risk group,but there are differences in the prognosis of MM patients with the same risk stratification.Therefore,more accurate risk stratification indicators can better guide the individualized and precise treatment of MM.This article intends to review research progress of clinical significance of primary and secondary cytogenetic alteration in patients with MM.