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多发性骨髓瘤患者 1q21 扩增伴额外遗传学异常显著恶化不良预后。

Additional genetic abnormalities significantly worsen poor prognosis associated with 1q21 amplification in multiple myeloma patients.

机构信息

Department of Haematooncology and Bone Marrow Transplantation, Medical University of Lublin, Lublin, Poland.

出版信息

Hematol Oncol. 2013 Mar;31(1):41-8. doi: 10.1002/hon.2018. Epub 2012 Jun 6.

DOI:10.1002/hon.2018
PMID:22674819
Abstract

We investigated the prognostic value of amp(1q21) alone and in combination with other abnormalities in newly diagnosed myeloma patients. The study group consisted of 104 patients treated with various induction regimens, mostly thalidomide based (87 patients). Amp(1q21) was detected in 49 (47.1%) of patients; in 26 (25.0%) cases, it was combined with del(13q14), in 7 (6.7%) with del(17p13) and in 15 (14.4%) with t(4;14)(p16;q32). The response rate was significantly better in amp(1q21)-negative than in amp(1q21)-positive patients (74.5% vs 55.1%, p = 0.025; complete response 18.2% vs 4.1%, p = 0.024). The median progression-free survival (PFS) was 33.9 months in patients without amp(1q21) and 10.3 months with this aberration (p = 0.002). The presence of additional abnormalities resulted in significantly shortened PFS when compared with patients with isolated amp(1q21): coexisting del(13q14) resulted in 7.8 vs 29.0 months of PFS (p = 0.024) and del(17p13) resulted in 4.0 vs 24.9 months of PFS (p = 0.034). The presence of amp(1q21) significantly influenced overall survival (OS) as well as PFS resulting in the median OS of 26.6 vs 62.4 months (p = 0.018) in patients without amp(1q21). The presence of additional genetic abnormalities significantly affected OS when compared with patients carrying isolated amp(1q21): for del(13q14) 18.9 vs 58.4 months (p = 0.004) and for del(17p13) 12.0 vs 46.5 months (p = 0.036). On multivariate analysis amp(1q21), del(13q14) and del(17p13) were found to be an independent adverse predictors of shorter PFS and OS. Our results showed that the presence of amp(1q21) was associated with poor prognosis. Moreover additional genetic abnormalities made PFS and OS further shortened.

摘要

我们研究了新诊断骨髓瘤患者中 amp(1q21) 单独及联合其他异常的预后价值。研究组包括 104 例接受不同诱导方案治疗的患者,其中 87 例主要采用沙利度胺方案。49 例(47.1%)患者检测到 amp(1q21);26 例(25.0%)病例中,amp(1q21)与 del(13q14)同时存在,7 例(6.7%)与 del(17p13)同时存在,15 例(14.4%)与 t(4;14)(p16;q32)同时存在。amp(1q21)阴性患者的缓解率明显优于 amp(1q21)阳性患者(74.5% vs 55.1%,p=0.025;完全缓解率为 18.2% vs 4.1%,p=0.024)。无 amp(1q21)患者的中位无进展生存期(PFS)为 33.9 个月,而存在该异常的患者为 10.3 个月(p=0.002)。与仅存在 amp(1q21)异常的患者相比,同时存在其他异常导致 PFS 显著缩短:同时存在 del(13q14)的患者 PFS 为 7.8 个月 vs 29.0 个月(p=0.024),同时存在 del(17p13)的患者 PFS 为 4.0 个月 vs 24.9 个月(p=0.034)。amp(1q21)的存在也显著影响总生存期(OS)和 PFS,导致无 amp(1q21)患者的中位 OS 为 26.6 个月 vs 62.4 个月(p=0.018)。与携带孤立 amp(1q21)的患者相比,存在其他遗传异常显著影响 OS:对于 del(13q14),OS 为 18.9 个月 vs 58.4 个月(p=0.004),对于 del(17p13),OS 为 12.0 个月 vs 46.5 个月(p=0.036)。多变量分析显示,amp(1q21)、del(13q14)和 del(17p13)是 PFS 和 OS 的独立不良预后因素。我们的结果表明,amp(1q21)的存在与预后不良相关。此外,其他遗传异常进一步缩短了 PFS 和 OS。

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