骨髓增生异常综合征患者细胞遗传学特征分析  

Analysis of Cytogenetic Characteristics in Patients with Myelodysplastic Syndrome

作　　者：马亮[1] 钟明华[2] 韩呈武[1] 王俊艳[1] 曹永彤[1] 马一盖[2] 

机构地区：[1]中日友好医院检验科,北京100029 [2]中日友好医院血液科,北京100029

出　　处：《中国实验血液学杂志》2012年第6期1405-1409,共5页Journal of Experimental Hematology

基　　金：国家科技支撑计划资助项目(编号2012BAH24F00)

摘　　要：本研究探讨骨髓增生异常综合征(MDS)患者中染色体异常核型在MDS亚型中的分布及其数目异常和结构异常特点。常规培养骨髓细胞,采用G显带技术对染色体核型进行分析。结果表明,127例患者中异常核型比例为42.5%(54/127),其中各亚型异常发生率MDS-RA为30%(3/10),MDS-RCMD为35.9%(23/64),MDS-RAS为22.2%(2/9),MDS-RAEB-Ⅰ为45%(9/20),MDS-RAEB-Ⅱ为66.7%(14/21),5q-综合征100%(3/3)。54例异常核型中仅数目异常者21例,仅有结构异常者14例,同时有结构异常和数目异常者19例。常见染色体异常依次为复杂核型(11.02%,14/127),单纯+8(10.24%,13/127),-7/7q-(3.9%,5/127),1q+(3.15%,4/127),-X/-Y(3.15%,4/127),20q-(2.36%,3/127),5q-(2.36%,3/127)。MDS-RAEB(包括RAEB-Ⅰ和RAEB-Ⅱ)患者中复杂核型发生率为31.71%(13/41),明显高于非RAEB(包括RA、RCMD、RAS、5q-综合征)患者中复杂核型发生率为1.16%(1/86)(P<0.05)。平衡易位核型发生率为1.57%(2/127),明显低于非平衡易位发生率为40.94%(52/127)(P<0.05),2例平衡易位患者均为MDS-RAEB。结论:MDS是一组高度异质性的克隆性疾病,染色体异常比较复杂,存在多种重现性异常;平衡易位较少见,仅存在于RAEB患者中;RAEB患者复杂异常核型发生率较高,本研究中伴dup(1)(q21q32)重现性异常核型所占比例较高。This study was aimed to investigate the distribution of chromosomal aberrational karyotype in myelodysplastic syndrome （MDS） subgroups, the characterizations of numerical and structural aberration. The chromosome was prepared with simple culture of bone marrow, and the karyotype was analysed by G banding technique. The results showed tht 54 out of 127 patients（42.5% ） had clonal chromosome aberrations, and the abnormal rates were different in subgroups： 30% （3/10） in MDS-RA, 35.9% （23/64）in MDS-RCMD, 22.2% （2/9） in MDS-RAS, 45% （9/20） in MDS-RAEB- Ⅰ , 66.7% （ 14/21 ）in MDS-RAEB- Ⅱ, 100% （3/3） in 5q-syndrome, respectively. Among 54 abnormal chromosome patients, 21 patients showed numerical aberration, 14 patients showed structural aberration, and the other 19 patients showed both numerical and structural aberration. The order of frequent aberrations was as follows complex karyotype （11.02%, 14/127 ）, single ＋ 8 （ 10.24%, 13/127 ）, - 7/7q-（ 3.9%, 5/127 ）, 1 q ＋ （3.15%, 4/ 127）, -X/-Y（3.15% ,4/127） ,20q-（2.36% ,3/127） ,5q-（2.36% ,3/127）. The frequency of complex karyotype in MDS-RAEB （including RAEB-Ⅰ and RAEB-Ⅱ ） was higher than that in non MDS-RAEB （including RA, RCMD, RAS, 5q-syndrome） （ P 〈 0.05 ）, and the frequency of balanced translocation was lower than that in non-balanced translocation （ P 〈 0.05 ）, and both of the two balanced translocation patients were found in MDS-RAEB. It is concluded that MDS is highly heterogenous clonal disorder, a great majority of cytogenetic changes can be detected and most of which are recurrent aberrations, balanced translocations are rare, and only found in MDS-RAEB. The frequency of complex karyotype in MDS-RAEB is higher, and the patients with dup（ 1 ） （q21q32） recurrent abnormality is common in this study.

关 键 词：骨髓增生异常综合征 染色体 细胞遗传学 数目异常 结构异常 

分 类 号：R733.3[医药卫生—肿瘤]