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 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 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.
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、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%。.
Keywords: Cytogenetic abnormality; Double-hit; Epidemiology; High risk; Multiple myeloma.