MGUS、原发性轻链型淀粉样变、MM及MM继发淀粉样变性患者的临床分析

Clinical Analysis of Patients with MGUS,Primary Light Chain Amyloidosis,Multiple Myeloma or Multiple Myeloma with Concurrent Amyloidosis

目的:总结并比较意义未明的单克隆丙种球蛋白血症(MGUS)、原发性轻链(pAL)型淀粉样变、多发性骨髓瘤(MM)以及MM继发淀粉样变性患者的临床基线特点,尤其是细胞遗传学异常的差异。方法:回顾性分析和比较2006年2月至2019年8月于中国医学科学院血液病医院淋巴瘤诊疗中心就诊,并完善了细胞遗传学异常检测的15例MGUS、34例pAL、842例MM和23例MM继发淀粉样变性患者的临床资料。结果:细胞遗传学统计显示,4组(MGUS vs pAL vs MM vs MM继发淀粉样变性)中t(11;14)易位发生率分别为0%、33.3%、16.4%和15.8%(P=0.037);13q缺失发生率分别为20.0%、14.7%、45.8%和56.5%(P<0.001);1q21扩增发生率分别为50.0%、12.5%、47.4%和40.9%(P=0.001)。31例pAL患者累积发生0个、1个和≥2个细胞遗传学异常(包括13q缺失、17p缺失、1q21扩增和IgH易位)的比例分别为41.9%、41.9%和16.1%;MM患者对应的该比例分别为17.6%、27.3%和55.2%;MM继发淀粉样变性的这一比例与MM相似。亚组分析显示,pAL患者中t(11;14)阴性与阳性两亚组合并其他遗传学异常比例相当(包括13q缺失、17p缺失和1q21扩增);而MM+MGUS患者中t(11;14)阴性病例更易合并13q缺失,且更常同时发生多个遗传学异常。结论:pAL的临床特点,尤其细胞遗传学异常特征与MM及MM继发淀粉样变性具有明显差异。这提示,虽然pAL与MM继发淀粉样变性的起病特征相似,但是二者分属于不同疾病亚型,应仔细加以鉴别。

Objective:To summarize and compare the clinical baseline characteristics of patients with monoclonal gammopathy of undetermined significance(MGUS),primary light chain amyloidosis(pAL),multiple myeloma(MM),or MM with concurrent amyloidosis,especially the differences in cytogenetic abnormalities.Methods:The clinical data of15 cases of MGUS,34 cases of pAL,842 cases of MM and 23 cases of MM with concurrent amyloidosis were analyzed and compared retrospectively.Results:Cytogenetic statistics showed that the incidence of t(11:14) in the four groups(MGUS vs pAL vs MM vs MM with concurrent amyloidosis) was 0%,33.3%,16.4%,and 15.8%,respectively(P=0.037);that of 13 q deletion was 20.0%,14.7%,45.8% and 56.5%,respectively(P<0.001);gain of 1 q21 was 50.0%,12.5%,47.4%and 40.9%,respectively(P=0.001).Proportion of pAL patients with 0,1 and ≥2 cytogenetic abnormalities(including 13 q deletion,17 p deletion,1 q21 amplification and IgH translocation) accounted for 41.9%,41.9% and 16.1%,respectively;while the proportion of the same category in MM was 17.6%,27.3%,and 55.2% respectively;this ratio of MM with concurrent amyloidosis was more similar to MM.Subgroup analysis showed that genetic abnormalities(including 13 q deletion,17 p deletion and 1 q21 amplification) were comparable within t(11:14) negative and positive groups.Compared with positive cases,t(11;14) negative patients with MM or MGUS were more likely to have 13 q deletions and multiple genetic abnormalities.Conclusion:Clinical characteristics of pAL,especially cytogenetic abnormalities,are significantly different from MM with concurrent amyloidosis.It suggests that although the onset characteristics are similar,actually the two diseases belong to different disease subtypes which should be carefully predicted and identified.