【摘要】 目的:分析包括del(1p)在内的高危细胞遗传学异常[t(4;14)、t(14;16)、t(14;20)、del(17p)和gain(1q)]界定的双打击多发性骨髓瘤(MM)患者的临床特征及生存情况，探索新药时代自体造血干细胞移植(ASCT)的作用。方法:基于单中心、临床队列128例患者，收集患者的临床、细胞遗传学资料及治疗、生存数据，回顾性分析生存和预后相关因素。结果:双打击MM患者的中位总生存期(OS)及无进展生存期(PFS)分别为56.4个月和30.0个月。ASCT组患者的中位OS和PFS(分别为未达到和49.8个月)均较非移植组(51.0个月和23.7个月)显著延长，且在硼替佐米、来那度胺联合地塞米松(VRD)诱导、<65岁患者以及获得部分缓解及以上疗效患者亚组中保留显著性差异。多因素分析显示：ASCT(HR=0.43,P=0.014)以及微小残留病(MRD)阴性(HR=0.31,P<0.001)显著影响PFS。而乳酸脱氢酶升高(HR=2.41,P=0.036)、ISS分期(HR=2.56,P=0.024)以及MRD阴性(HR=0.11,P<0.001)是OS的独立影响因素。结论:双打击MM患者预后不佳，ASCT改善该类患者的生存。ASCT和MRD阴性是改善双打击MM患者预后的关键因素。更多还原

【Abstract】 Objective: This study focused on the clinical characteristics and outcomes of patients with double-hit multiple myeloma(MM) defined by more than one high-risk cytogenetic abnormalities, including del(1p), t(4; 14), t(14; 16), t(14; 20), del(17p), and gain(1q), and explored the role of autologous hematopoietic stem cell transplantation(ASCT) in the era of novel therapies. Methods: This study was based on a single center, clinical cohort of 128 MM patients. It collected cytogenetic abnormalities and clinical/survival data of newly diagnosed MM patients to retrospectively conduct correlation and Kaplan-Meier survival analyses. Results: The median overall survival(OS) and progression free survival(PFS) of double-hit MM patients was 56.4 months and 30.0 months, respectively. The median OS(not reached) and PFS(49.8 months) of the ASCT group was significantly longer than that of the non-ASCT group(51.0 months and 23.7 months, respectively). The difference remained statistically significant in subgroups of patients who received bortezomib, lenalidomide with dexamethasone induction, younger than 65 years and achieved partial response. In the multivariate analysis, ASCT(HR=0.43, P=0.014) and MRD negativity(HR=0.31, P<0.001) significantly impacted PFS. And LDH elevation(HR=2.14, P=0.036), ISS(HR=2.56, P=0.024), and MRD negativity(HR=0.11, P<0.001) was independent factors for OS. Conclusion: Double-hit MM patients had poor prognosis, and ASCT could improve their survival. ASCT and MRD negativity were key factors for improving the outcomes of double-hit MM patients.更多还原