[应用间期荧光原位杂交技术检测多发性骨髓瘤13号染色体长臂缺失：中国100例病例研究]

[Chromosome 13q deletion detected by interphase FISH in multiple myeloma: a study of 100 cases in China].

作者信息

Li Qian, Lu Yun, Wang Ya-Fei, Liu Xu-Ping, Qi Jun-Yuan, Zou De-Hui, Zhao Yao-Zhong, Qiu Lu-Gui

机构信息

Institute of Hematology and Blood Disease Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin 300020, China.

出版信息

Zhonghua Yi Xue Za Zhi. 2009 Jul 28;89(28):1979-82.

PMID:19950573

Abstract

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 R-banding 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 (Delta13); conventional cytogenetics (CC) revealed informative MM karyotypes in 24 patients (24.0%),with Delta13 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 Delta13 detected by i-FISH >50%, clonal chromosome 13 abnormality (C13A), nonhyperdiploidy, Delta13 detected by both CC and i-FISH, beta2-MG > or = 3.5 mg/L were associated with significantly shorter OS. Multivariate analysis indicated that the positive rate of Delta13 detected by i-FISH > 50% and beta2-MG > or = 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 Delta13 detected by i-FISH > 50% and beta2-MG > or = 3.5 mg/L were the independent adverse prognostic factors.

摘要

目的

总结100例采用间期荧光原位杂交（i-FISH）检测的多发性骨髓瘤（MM）患者的临床意义及13q-特征。

方法

收集中国医学科学院血液病医院（天津）100例MM患者的骨髓标本，进行染色体R显带分析和i-FISH检测。

结果

（1）应用i-FISH检测100例MM患者，中位年龄56岁，19例（19.0%）出现13号染色体缺失/13号染色体单体（Delta13）；常规细胞遗传学（CC）在24例患者（24.0%）中检测到有意义的MM核型，其中10例（10.0%）出现Delta13。两种方法的检出率无显著差异（P = 0.053），但在新诊断患者中，i-FISH比CC检测更敏感（检出率分别为25.3%和9.3%，P = 0.008）。（2）全部病例中，93例有完整随访资料。93例患者的总生存期（OS）为41（1-69）个月。单因素分析显示，i-FISH检测Delta13阳性率>50%、克隆性13号染色体异常（C13A）、非超二倍体、CC和i-FISH均检测到Delta13、β2-微球蛋白>或=3.5 mg/L与OS显著缩短相关。多因素分析表明，i-FISH检测Delta13阳性率>50%和β2-微球蛋白>或=3.5 mg/L是独立的不良因素。（3）根据上述两个独立的不良因素，将93例患者分为低危、中危和高危三组。三组患者的OS有显著差异（P < 0.05）。