初治多发性骨髓瘤患者细胞遗传学异常流行病学的多中心回顾性研究

目的了解我国初诊多发性骨髓瘤(MM)患者细胞遗传学异常(CA)的构成和频率,基于2018年更新的危险分层标准(mSMART3.0)分析双打击MM(DHMM)及三打击MM(THMM)的发生率。方法纳入全国5个中心的初诊MM患者,磁珠分选CD138细胞或浆细胞比例≥50%的骨髓标本行初诊间期FISH(iFISH)检测CA的基线结果,分析原发CA(pCA)、继发CA(sCA)、高危(HR)CA和DHMM/THMM的发生率,并分析不同CA组合的情况。结果共纳入初诊MM患者1015例,IgH重排、del(13q)/13q14、1q21扩增、del(17p)发生率分别为54.0%、46.4%、46.1%、9.9%。其中,1q21扩增拷贝数=3、≥4的发生率分别为35.8%、12.7%。454例患者具有完整CA基线结果,pCA中t(4;14)、t(11;14)和t(14;16)发生率分别为14.1%、11.2%和4.8%;44.3%患者携带≥2种CA,包括2种CA(28.0%)、3种CA(13.4%)和≥4种CA(2.9%);83.3%的1q扩增患者伴其他CA,以del(13q)/13q14最常见(61.1%),IgH重排次之(31.5%);95.0%的del(17p)患者伴其他CA,以del(13q)/13q14最常见(75.2%),1q21扩增次之(49.5%);68.6%的IgH重排患者伴其他CA,以del(13q)/13q14和1q21扩增最常见(均为61.9%);根据2016年国际骨髓瘤工作组的定义,57.7%患者携带HRCA;依据2018年mSMART 3.0的定义,DHMM(HRCA=2)和THMM(HRCA≥3)患者分别占14.3%和2.9%。结论更新了我国初诊MM患者的CA谱,发现基于CA的HR MM占初诊MM患者的比例近58%,并首次报道DHMM和THMM的发生率约为17%。

Epidemiological analysis of cytogenetic abnormalities in patients with newly-diagnosed multiple myeloma:a multi-center retrospective study

Objective To analyze the frequency and composition of risk-related cytogenetic abnormalities(CAs)in patients with newly-diagnosed multiple myeloma(NDMM).Methods The frequency and composition of risk-related CAs from a cohort of 1015 Chinese patients with NDMM were determined by interphase fluorescence in situ hybridization(iFISH),individually or in combination.Results Of the cohort of 1015 Chinese patients with NDMM,the frequencies of IgH arrangement,del(13q)/13q14,1q gain and del(17p)were 54.0%,46.4%,46.1%(35.8%and 12.7%for 3 or more than 3 copies)and 9.9%,respectively.Among 454 patients who had the baseline information for all risk-related CAs[except t(14;20),which was not covered by the FISH panels performed routinely at all five centers],the frequencies of t(4;14),t(11;14)or t(14;20)were 14.1%,11.2%and 4.8%,respectively;of them,44.3%patients carried 2 or more CAs(28.0%,13.4%and 2.9%for 2,3 or≥4 CAs);83.3%,95.0%or 68.6%patients with 1q gain,del(17p)or IgH rearrangement had 1 or more additional CA(s),with del(13q)/13q14 as the most frequently accompanied CA;57.7%patients carried at least 1 HRCA;the incidences of double-hit(DH)MM(DHMM)(=2 HRCAs)and triple-hit(TH)(THMM)(≥3 HRCAs)were 14.3%and 2.9%,respectively.Conclusions Our results provided an up-to-date profile of CAs in Chinese NDMM patients,which revealed that approximately 58%patients might carry at least 1 HRCA,and 17%could experience so-called DHMM or THMM who presumably had the worst outcome.