中文摘要：

目的 研究染色体13q14缺失在多发性骨髓瘤（MM）患者中的发生率及其临床意义.方法 对我院淋巴瘤中心132例初治MM患者骨髓标本行CD138免疫磁珠富集骨髓瘤细胞后,采用13q14（RB1）探针进行荧光原位杂交（FISH）检测,结合不同治疗方案分析其临床意义.结果 ①检出率：FISH检测13q14缺失率为51.5%,而常规染色体核型分析△l3（-13/13q-）检出率仅为5.0%.②单因素分析显示,13q14缺失比例＞25%、ISS分期为Ⅱ或Ⅲ期、血β2-MG≥5.5 mg/L、起病时骨髓涂片浆细胞比例＞0.500是不良预后因素.多因素分析显示,只有13q14缺失比例＞25%是独立的不良预后因素.硼替佐米与传统化疗相比可明显提高13q14缺失患者的近期疗效.应用硼替佐米后13q14缺失比例＞25%患者与缺失比例≤25%患者的总生存时间差异无统计学意义,提示硼替佐米能克服13q14缺失对预后的不良影响.结论 CD138磁珠分选后行FISH检测可以显著提高MM患者中13q14缺失的检出率;FISH检测MM患者13q14缺失比例＞25%是独立的预后不良因素,且与患者自身的肿瘤负荷、其他遗传学指标密切相关;硼替佐米可以克服13q14缺失对近期疗效的不良影响.

英文摘要：

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 ith magnetic activated cell sorting （MACS） were performed on chromosome 13q14（RB-1）. Results ①i-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/monosony13 （△13）only of 5.0% （6/120）. ②Univariate analysis showed that 13q14 deletion rate by i-FISH 〉25%, bone marrow plasma cells 〉 50%, ISS stage and β2 -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）. ③Patients 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 ①i-FISH followed CD138 cell sorting appeares to be a highly sensitive method for detecting 13q14 deletion. ②13q14 deletion rate by i-FISH 〉25% is an independent unfavorable factor. ③Bortezomib could reverse the poor prognosis of l3q14 deletion.