伴有1q21扩增的多发性骨髓瘤的临床和生物学特征
[Clinical and biological characteristics multiple myeloma with 1q21 amplification].
作者信息
Zhong Shizhen, Li Chengwen, Yi Shihua, Qiu Lugui
机构信息
State Key Laboratory of Experimental Hematology, Department of Lymphoma, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin 300020, China.
出版信息
Zhonghua Yi Xue Za Zhi. 2016 Mar 1;96(8):615-9. doi: 10.3760/cma.j.issn.0376-2491.2016.08.007.
OBJECTIVE
To study the clinical features of multiple myeloma (MM) patients with 1q21 amplification and the detection and biological characteristics of 1q21 copy number variation among different stages of plasma cell dyscrasias.
METHODS
We analyzed the amplification and copy number variation of 1q21 in a cohort of 397 MM patients (290 newly diagnosed patients and 107 relapsed/refractory patients) in Institute of Hematology and Blood Diseases Hospital in the period between January 2009 and December 2012, using fluorescence in situ hybridization (FISH). We compared the incidence and biological characteristics of 1q21 gains among different stages of MM.
RESULTS
Among the newly diagnosed MM patients, the cases without 1q21 gains (148 cases) had difference prevalence of q13 deletion (38.3% (56/146) vs 57.7% (82/142), P=0.001), t(4; 14) translocation (17.4% (25/144) vs 30.7% (42/137), P=0.009), and high-risk cytogenetic abnormalities (28.3% (39/138) vs 41.9% (57/136), P=0.018), and International Staging System (ISS) stage (P=0.010) compared to those with 1q21 gains (142 cases); however, there were no significant differences in age(P=0.448), Durie-Salmon clinical stage (P=0.352) and β2-microglobulin level (P=0.414). In the newly diagnosed patients, the incidence of this 1q21 aberration with the percentages of plasma cells involved being ≥10%, ≥20%, and ≥30% was 52.4% (152/290), 49.0% (142/290), and 46.2% (134/290), respectively, lower than that in the relapsed/refractory patients (71.0% (76/107), P=0.001; 68.2% (73/107), P=0.001; 63.6% (68/107), P=0.002). Differences were found between the newly diagnosed MM patients and the relapsed/refractory ones in terms of the incidence of 1q21 copy number gains being 2 (52.2% (145/278) vs 33.3% (34/102), P=0.001), but not in the incidence of 1q21 copy number gains being 3, 4, and >5 (all P>0.05).
CONCLUSIONS
Amplification of chromosome 1q21 is a common genetic abnormality in MM patients. The copy number varies in patients carrying 1q21 gains, mainly with two or more copies of 1q21. It may therefore be recommended to include testing for 1q21 gains in routine genetic testing of MM patients.
目的
研究伴有1q21扩增的多发性骨髓瘤（MM）患者的临床特征，以及浆细胞发育异常不同阶段中1q21拷贝数变异的检测及生物学特性。
方法
我们采用荧光原位杂交（FISH）技术，分析了2009年1月至2012年12月期间在血液学研究所和血液病医院的397例MM患者（290例新诊断患者和107例复发/难治性患者）队列中1q21的扩增和拷贝数变异情况。我们比较了MM不同阶段中1q21获得的发生率及生物学特性。
结果
在新诊断的MM患者中，未发生1q21获得的病例（148例）与发生1q21获得的病例（142例）相比，q13缺失的发生率（38.3%（56/146）对57.7%（82/142），P = 0.001）、t(4; 14)易位（17.4%（25/144）对30.7%（42/137），P = 0.009）以及高危细胞遗传学异常（28.3%（39/138）对41.9%（57/136），P = 0.018）和国际分期系统（ISS）分期（P = 0.010）存在差异；然而，年龄（P = 0.448）、Durie-Salmon临床分期（P = 0.352）和β2-微球蛋白水平（P = 0.414）无显著差异。在新诊断患者中，浆细胞受累百分比≥10%、≥20%和≥30%时，这种1q21异常的发生率分别为52.4%（152/290）、49.0%（142/290）和46.2%（134/290），低于复发/难治性患者（71.0%（76/107），P = 0.001；68.2%（73/107），P = 0.001；63.6%（68/107），P = 0.002）。新诊断的MM患者与复发/难治性患者在1q21拷贝数增加为2时的发生率（52.2%（145/278）对33.3%（34/102），P = 0.001）存在差异，但在1q21拷贝数增加为3、4和>5时的发生率（所有P>0.05）无差异。
结论
1q21染色体扩增是MM患者常见的遗传异常。携带1q21获得的患者拷贝数有所不同，主要为两个或更多拷贝的1q21。因此，建议在MM患者的常规基因检测中纳入1q21获得的检测。
Zotero 插件