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[13q14缺失对多发性骨髓瘤发生发展及预后的意义]

[The significances of 13q14 deletion for development and prognosis of multiple myeloma].

作者信息

Li Qian, An Gang, Li Cheng-wen, Xu Yan, Deng Shu-hui, Liu Xu-ping, Qi Jun-yuan, Wang Ya-fei, Zou De-hui, Zhao Yao-zhong, Qiu Lu-gui

机构信息

Institute of Hematology and Blood Diseases Hospital, CAMS & PUMC, Tianjin 300020, China.

出版信息

Zhonghua Xue Ye Xue Za Zhi. 2011 Apr;32(4):217-20.

Abstract

OBJECTIVE

To determine the incidence and clinical significance of chromosome 13q14 deletion in multiple myeloma (MM).

METHODS

Bone marrow samples were collected from 132 newly diagnosed MM patients referred to our hospital. Interphase fluorescence in situ hybridization (i-FISH) combined with magnetic activated cell sorting (MACS) were performed on chromosome 13q14 (RB-1).

RESULTS

(1) i-FISH was used to investigate CD138-enriched bone marrow MM cells and revealed a 13q14 deletion rate of 51.5% (68/132), while conventional cytogenetic (CC) analysis revealed 13q deletions/monosomy 13 (Δ13) only of 5.0%(6/120). (2) Univariate analysis showed that 13q14 deletion rate by i-FISH > 25%, bone marrow plasma cells > 50%, ISS stage and β(2)-MG ≥ 5.5 mg/L were associated with shorter overall survival (OS). Multivariate analysis revealed that 13q14 deletion rate by i-FISH > 25% was an independent unfavorable factor (P = 0.042). (3) Patients treated with bortezomib had a much better response than those treated with traditional chemotherapy (P = 0.001). There was no significant difference in OS between patients received bortezomib with and without 13q14 deletion (P > 0.05), indicating that bortezomib could reverse the poor prognosis of 13q14 deletion.

CONCLUSION

(1) i-FISH followed CD138 cell sorting appears to be a highly sensitive method for detecting 13q14 deletion. (2) 13q14 deletion rate by i-FISH > 25% is an independent unfavorable factor. (3) Bortezomib could reverse the poor prognosis of 13q14 deletion.

摘要

目的

确定13号染色体长臂14区(13q14)缺失在多发性骨髓瘤(MM)中的发生率及临床意义。

方法

收集我院收治的132例新诊断MM患者的骨髓样本。采用间期荧光原位杂交(i-FISH)联合磁珠分选(MACS)技术检测13q14(RB-1)。

结果

(1)i-FISH检测富集CD138的骨髓MM细胞,13q14缺失率为51.5%(68/132),而传统细胞遗传学(CC)分析显示13q缺失/13号染色体单体(Δ13)仅为5.0%(6/120)。(2)单因素分析显示,i-FISH检测的13q14缺失率>25%、骨髓浆细胞>50%、国际分期系统(ISS)分期及β2微球蛋白(β2-MG)≥5.5 mg/L与总生存期(OS)缩短相关。多因素分析显示,i-FISH检测的13q14缺失率>25%是独立的不良因素(P = 0.042)。(3)接受硼替佐米治疗的患者比接受传统化疗的患者反应更好(P = 0.001)。接受硼替佐米治疗的患者中,有或无13q14缺失者的OS无显著差异(P>0.05),表明硼替佐米可逆转13q14缺失的不良预后。

结论

(1)CD138细胞分选后行i-FISH似乎是检测13q14缺失的高度敏感方法。(2)i-FISH检测的13q14缺失率>25%是独立的不良因素。(3)硼替佐米可逆转13q14缺失的不良预后。

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