荧光原位杂交检测多发性骨髓瘤患者△13及其临床意义

Chromosome 13q deletion detected by interphose FISH in multiple myeloma： a study of 100 cases in China

目的总结100例多发性骨髓瘤（MM）患者荧光原位杂交（FISH）检测△13（13q-／-13）阳性率及其临床意义。方法对100例MM患者采用RB-1探针行FISH检测，并结合常规染色体（CC）结果分析其临床意义。结果（1）△13FISH检出率为19．0％，CC检出率为10．0％，差异未达统计学显著性（P=0．053）。（2）单因素分析示FISH检测△13阳性率〉50％、CC检测克隆性△13（C13A）、非超二倍体核型、FISH检测和CC检测双阳性、血β2-MG≥3．5mg／L为不良预后因素。（3）多因素分析示FISH检测A13阳性率〉50％和血β2-MG≥3．5mg／L是独立预后因素。（4）根据上述两个独立预后因素，可将患者分为低、中、高危3组，两两比较总体生存时间（OS），差异均有统计学意义。结论（1）FISH检测提高了初治MM遗传学异常的检出率。（2）预后分析示FISH检测△13阳性率〉50％和血β2-MG水平为独立预后因素。

Objective To summarize the clinical significance and 13q- characters of 100 multiple myeloma （MM） patients detected by interphase fluorescence in situ hybridization （i-FISH）. Methods Specimens of bone marrow were collected from 100 patients with MM who visited the Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences in Tianjin, China. Chromosome Rbanding analysis and i-FISH were conducted. Results （1）i-FISH was used to investigate 100 patients with MM , whose median age was 56 years and 19 （19.0%） cases showed chromosome 13q deletions/ monosony13 （ △13 ） ; conventional cytogenetics （CC） revealed informative MM karyotypes in 24 patients （24. 0% ） ,with △13 in 10（10. 0% ） of them. Detection rate of the two methods had no significant difference （P = 0. 053 ）, but in newly diagnosed patients i-FISH was much more sensitive than CC test （Detection rate,25. 3% vs 9. 3% , P = 0. 008 ）. （ 2 ） Among the whole cases, 93 of them had complete follow-up information. The overall survival （OS） of the 93 patients was 41 （ 1 - 69） months. Univariate analysis showed that the positive rate of △13 detected by i-FISH 〉 50%, clonal chromosome 13 abnormality （C13A）, nonhyperdiploidy, △13 detected by both CC and i-FISH, β2-MG≥3.5 mg/L were associated with significantly shorter OS. Multivariate analysis indicated that the positive rate of △13 detected by i-FISH 〉 50% and β2-MG /〉 3.5 mg/L were the independent unfavorable factors. （3） According to the two independent unfavorable factors mentioned above, we divided the 93 patients into three groups： low-risk, standard-risk and high-risk. And there were significant differences of OS among the 3 groups （P 〈 0. 05 ）. Conclusion （1）FISH studies demonstrate a high sensitivity at detecting chromosome 13 abnormality and should be used in the routine evaluation of MM. （2） the positive rate of △13 detected by i-FISH 〉50% and 132-MG≥3.5 mg/L were the independent adverse prognostic factors.