伴1q21扩增初治多发性骨髓瘤患者疗效及预后的回顾性分析

目的 探讨1q21扩增（1q21+）与初治多发性骨髓瘤（newly diagnosed multiple myeloma，NDMM）患者的治疗疗效及预后的关系，以及1q21+在MM危险分层中的优势。方法 回顾性分析选择2015 年11月至 2021 年11月于首都医科大学附属北京潞河医院就诊的NDMM患者作为研究对象，采用iFISH 技术检测细胞遗传学异常情况，分析1q21+与以硼替佐米为基础的诱导化疗及自体干细胞移植（autologous stem cell transplant，ASCT）疗效及预后的关系，比较MM R2-ISS与R-ISS的分层优势。结果 本研究共纳入159例NDMM患者，1q21+患者79例，非1q21+患者80例，其中41例患者接受RVD方案治疗，118例患者接受非RVD方案治疗。在1q21+的患者中，RVD组的完全缓解（complete remission，CR）率高于非RVD组（P<0.001）；RVD组中，1q21+的CR率低于非1q21+的患者（P=0.004）。多因素分析显示，1q21+是NDMM患者无进展生存期（progression-free survival，PFS）和总生存期（overall survival，OS）的独立危险因素（P<0.05）。在50例接受ASCT的患者中，1q21+患者的1年、3年的OS率及PFS率均较非1q21+患者更低（P=0.055，0.002）。R2-ISS分期Ⅰ期、Ⅱ期、Ⅲ期和Ⅳ期患者的1年PFS率分别为96.3%、95.0%、92.0%和85.4%，3年PFS率分别为88.9%、80.5%、74.0%和61.5%，组间比较差异有统计学意义（P=0.005）。结论 1q21+是NDMM患者OS和PFS的独立危险因素，与患者预后不良有关。RVD方案能提高1q21+ NDMM患者的缓解深度，ASCT可以改善患者预后，但均不能完全克服1q21+带来的不良影响。在临床中R2-ISS分期在MM危险分层方面具有优越性。

Retrospective analysis of efficacy and prognosis of newly diagnosed multiple myeloma patients with 1q21 amplification

Objective To investigate the relationship between 1q21 amplification (1q21+) and the treatment efficacy and prognosis of the newly diagnosed multiple myeloma (NDMM) patients, and to explore the advantage of 1q21+ in the risk stratification of MM. Methods The patients with NDMM treated in Beijing Lu-He Hospital, Capital Medical University, from November 2015 to November 2021 were selected as the research objects. The cytogenetic abnormalities were detected by the interphase fluorescence in situ hybridization (iFISH). The relationship between 1q21+ and the efficacy and prognosis of bortezomib based induction chemotherapy and autologous stem cell transplant (ASCT) were analyzed. The stratification advantages of MM R2-ISS and R-ISS were compared. Results A total of 159 NDMM patients were included in this study, 79 patients with 1q21+ and 80 patients with no 1q21+, of whom 41 patients were treated with RVD regimens and 118 patients with no-RVD regimens. Among 1q21+ patients, the complete remission (CR) rate of the RVD group was higher than that of the no-RVD group (P<0.001). In RVD group, the CR rate of 1q21+ patients was lower than that of no 1q21+ patients (P=0.004). Multivariable analysis showed that 1q21+ was an independent risk factor for the progression-free survival (PFS) and the overall survival (OS) in the patients with NDMM (P<0.05). Among the 50 patients receiving ASCT, the 1-year and 3-year OS and PFS rates of 1q21+ patients were shorter than those of no 1q21+ patients (P=0.055, 0.002). The 1-year PFS rates of patients with stageⅠ, Ⅱ,Ⅲ and Ⅳ of R2-ISS were 96.3%, 95.0%, 92.0% and 85.4%, respectively, and the 3-year PFS rates were 88.9%, 80.5%, 74.0% and 61.5%, respectively, with statistical significance (P=0.005). Conclusions 1q21+ is an independent risk factor for the OS and PFS in the patients with NDMM, which is associated with poor prognosis. RVD can improve the remission depth of 1q21+ NDMM patients, while ASCT can improve the prognosis of patients, but neither of them can completely overcome the adverse effects of 1q21+. Clinically, the R2-ISS has advantages in the MM risk stratification.