Deng Shu-hui, Xu Yan, Wang Ya-fei, Mai Yu-jie, Liu Xu-ping, Zhao Yao-zhong, Zou De-hui, Wang Ying, Qiu Lu-gui
Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin 300020, China.
Zhonghua Yi Xue Za Zhi. 2007 Jun 26;87(24):1685-8.
To summarize the cytogenetic characteristics of patients with multiple myeloma (MM) in China and clinical significance thereof.
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 banding analysis and fluorescence in situ hybridization (FISH) were conducted.
(1) Clonal chromosome aberrations (CA) were detected in 16 of 93 patients (17.2%) by conventional cytogenetics (CC), and when subclonal CA was included CA were detected in 37.0% of the patients. Numerical aberration analysis showed that the most common trisomies were 11, 21, 3, 6, and 12, and the most common monosomies were 16, 13, 8, 22, and 11. Structural aberration analysis showed that the most frequently involved arms were 14q, 8q, 1q, 6q, 11q, 12p, and 1p, and the most frequently involved breakpoints were 14q32, 8q22 - 24, 11q13 - 14, 6p21, 1q10 - 11, and 12p12 - 13. Ploidy level was arranged in decreasing order as: hypodiploidy (46.1%), pseudodiploid (38.5%), hyperdiploidy (18.8%), and tri-/tetraploidy (15.4%). Chromosome 13 abnormality (C13A) was detected in 7 of the 100 patients (7%). The C13A prevalence rates by CC and interphase FISH were 6.0% and 33.3% respectively. Translocations involving chromosome 14 and/or 14q32 aberrations were detected in 6 patients (6.0%). (2) Univariate analysis showed that C13A, nonhyperdiploidy, and clonal CA were associated with significantly shorter overall survival (OS) and time to progression (TTP). Multivariate analysis showed that C13A was the only independent unfavorable factor.
The concrete CA of the patients with MM in China are comparable to those from Western countries, among which C13A, nonhyperdiploidy, hyperdiploidy, and translocations involving immunoglobulin heavy chain locus (IgH) are recurrent. C13A, nonhyperdiploidy, and clonal CA are associated with shorter OS and time-to-progression, and C13A is the only independent adverse prognostic factor.
总结中国多发性骨髓瘤（MM）患者的细胞遗传学特征及其临床意义。
收集100例就诊于中国天津中国医学科学院血液病医院血液学研究所的MM患者的骨髓标本，进行染色体核型分析和荧光原位杂交（FISH）检测。
（1）93例患者中16例（17.2%）通过常规细胞遗传学（CC）检测到克隆性染色体异常（CA），若将亚克隆性CA计算在内，则37.0%的患者检测到CA。数目异常分析显示，最常见的三体是11、21、3、6和12，最常见的单体是16、13、8、22和11。结构异常分析显示，最常受累的臂是14q、8q、1q、6q、11q、12p和1p，最常受累的断点是14q32、8q22 - 24、11q13 - 14、6p21、1q10 - 11和12p12 - 13。倍体水平由高到低依次为：亚二倍体（46.1%）、假二倍体（38.5%）、超二倍体（18.8%）和三/四倍体（15.4%）。100例患者中有7例（7%）检测到染色体13异常（C13A）。CC和间期FISH检测C13A的发生率分别为6.0%和33.3%。6例患者（6.0%）检测到涉及染色体14和/或14q32异常的易位。（2）单因素分析显示，C13A、非超二倍体和克隆性CA与总生存期（OS）和疾病进展时间（TTP）显著缩短相关。多因素分析显示，C13A是唯一的独立不良因素。
中国MM患者的具体CA与西方国家相当，其中C13A、非超二倍体、超二倍体以及涉及免疫球蛋白重链基因座（IgH）的易位较为常见。C13A、非超二倍体和克隆性CA与较短的OS和疾病进展时间相关，且C13A是唯一独立的不良预后因素。
