骨髓增生异常综合征不同亚型染色体核型异常分析  

Analysis of abnormal karyotypes in subtypes of myelodysplastic syndrome

作　　者：陈双[1] 张正昊[1] 刘洋[1] 江明[1] 郝建萍[1] 李玲[1] 

机构地区：[1]新疆医科大学第一附属医院血液科,新疆乌鲁木齐830054

出　　处：《实用肿瘤杂志》2013年第2期147-150,共4页Journal of Practical Oncology

基　　金：新疆维吾尔自治区自然科学基金项目(201021100A45)

摘　　要：目的探讨骨髓增生异常综合征(myelodysplastic syndrome,MDS)不同亚型与染色体核型异常的关系。方法收集117例MDS患者行骨髓形态学检查及染色体核型分析,9例患者同时行间期FISH检测。形态学分析采用骨髓穿刺及外周血涂片行瑞氏染色,骨髓分类500个细胞,外周血片分类100个细胞;染色体分析采用骨髓细胞短期培养法制备和RHG显带技术进行核型分析。结果 117例MDS患者有52例显示核型异常,其中数量异常21例,结构异常21例,数量和结构均异常10例。各亚型中染色体核型异常的检出率分别为RCUD 28.6%(6/21),RARS 20.0%(1/5),RCMD 46.2%(24/52),RAEB-Ⅰ50.0%(9/18),RAEB-Ⅱ55.0%(11/20),MDS伴有单纯del(5q)1例。MDS随着亚型进展,染色体复杂异常核型及预后不良核型比例增加,预后良好核型比例减少,但未显示统计学意义(P>0.05)。结论染色体核型分析对于MDS的诊断及判断预后有重要价值,其染色体预后不良核型检出率与MDS亚型进展有关。Objective To investigate the relationship between abnormal karyotypes and subtypes of myelodysplastic syndrome （MDS）. Methods Wright-Giemsa stained bone marrow aspirate samples （500-cell differential counts） and peripheral blood smear samples （100-cell differential counts） were examined morphologically in 117 MDS patients; the karyotypes were analyzed by RHG banding method in short-term bone marrow culture. Interphase fluorescence in situ hybridization （FISH） was also tested in 9 cases. Results Fifty-two of 117 cases showed abnormal karyotypes, among which 21 showed abnormal chromosome number, 21 showed abnormal structure and 10 showed both. The abnormal karyotypes in all subtypes were：6/21 （28.6%） in RCUD, 1/5 （20.0%） in RARS ,24/52 （46.2%） in RCMD,9/18（50.0% ） in RAEB- I , 11/20（55.0% ） in RAEB-Ⅱ ,and 1 case showed a simple del（5q）. With the progression of MDS, the percentage of abnormal karyotypes and those associated with poor prognosis gradually increased and those with good prognosis decreased, but there was no statistical significance （ P 〉 0.05 ）. Conclusion The analysis of karyotypes may have value for diagnosis and prognosis of myelodysplastic syndrome.

关 键 词：骨髓增生异常综合征 病理学 骨髓增生异常综合征 遗传学 染色体 人 核型分析 骨髓检查 原位杂交 荧光 

分 类 号：R551.3[医药卫生—血液循环系统疾病] R36[医药卫生—内科学]