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新诊断多发性骨髓瘤患者细胞遗传学异常的流行病学分析:一项多中心回顾性研究

[Epidemiological analysis of cytogenetic abnormalities in patients with newly-diagnosed multiple myeloma: a multi-center retrospective study].

作者信息

Yuan R F, Dong Y J, Li C R, Huang W R, Zhang L M, Zhu Q, Xu L, Xu Y J, Xu Q, Gao G X, Jin F Y

机构信息

Department of Hematology, Xijing Hospital, Fourth Military Medical University, Xian 710032, China.

Department of Hematology, Peking University First Hospital, Beijing 100034, China.

出版信息

Zhonghua Xue Ye Xue Za Zhi. 2020 Jan 14;41(1):10-15. doi: 10.3760/cma.j.issn.0253-2727.2020.01.003.

Abstract

To analyze the frequency and composition of risk-related cytogenetic abnormalities (CAs) in patients with newly-diagnosed multiple myeloma (NDMM) . 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. 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. 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.

摘要

分析新诊断多发性骨髓瘤(NDMM)患者中与风险相关的细胞遗传学异常(CA)的频率和构成。通过间期荧光原位杂交(iFISH)单独或联合检测1015例中国NDMM患者队列中与风险相关的CA的频率和构成。在1015例中国NDMM患者队列中,免疫球蛋白重链(IgH)重排、13号染色体长臂缺失(del(13q)/13q14)、1号染色体三体(1q增益)和17号染色体短臂缺失(del(17p))的频率分别为54.0%、46.4%、46.1%(3条或3条以上拷贝为35.8%和12.7%)和9.9%。在454例有所有与风险相关CA基线信息的患者中[除t(14;20)外,所有五个中心常规进行的荧光原位杂交(FISH)检测板均未涵盖该异常],t(4;14)、t(11;14)或t(14;20)的频率分别为14.1%、11.2%和4.8%;其中,44.3%的患者携带2种或更多种CA(2种、3种或≥4种CA分别为28.0%、13.4%和2.9%);1q增益、del(17p)或IgH重排的患者中,83.3%、95.0%或68.6%有1种或更多种其他CA,其中del(13q)/13q14是最常伴随的CA;57.7%的患者携带至少1种高危细胞遗传学异常(HRCA);双打击(DH)骨髓瘤(DHMM)(=2种HRCA)和三打击(TH)(THMM)(≥3种HRCA)的发生率分别为14.3%和2.9%。我们的结果提供了中国NDMM患者CA的最新概况,表明约58%的患者可能携带至少1种HRCA,17%可能患有所谓的DHMM或THMM,其预后可能最差。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4749/7357912/047fba65e398/cjh-41-01-010-g001.jpg

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