摘要目的 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1 015例,IgH重排、del(13q)/13q14、lq21扩增、del(17p)发生率分别为54.0％、46.4％、46.1％、9.9％.其中,lq21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lq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％),lq21扩增次之(49.5％);68.6％的IgH重排患者伴其他CA,以del(13q)/13q14和lq21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％.

abstractsObjective 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 1 015 Chinese patients with NDMM were determined by interphase fluorescence in situ hybridization (iFISH),individually or in combination.Results Of the cohort of 1 015 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 than3copies) 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 ≥ CAs);83.3％,95.0％ or 68.6％ patients with lq gain,del(17p) or 1gH 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.