50例MDS患者的细胞遗传学异常的荧光原位杂交检测和常规染色体核型分析研究  

Cytogenetic Abnormalities of 50 MDS Patients by FISH Detection and Conventional Karyotype Analysis

作　　者：高冬格[1] 李渤涛[1] 周丽娜[1] 陈虎[1] 张斌[1] 

机构地区：[1]军事医学科学院附属医院造血干细胞移植科,全军造血干细胞研究所,北京100071

出　　处：《中国实验血液学杂志》2013年第5期1190-1194,共5页Journal of Experimental Hematology

基　　金：首都临床特色应用研究(编号SQ2010AA0201008009);医院创新基金重点项目

摘　　要：本研究对比FISH检测和常规染色体核型分析对骨髓增生异常综合征常见染色体异常克隆的检出率,探讨细胞遗传学异常与骨髓增生异常综合征进展为急性白血病的关系。应用FISH 5/7/20/8/Y染色体数目及缺失检测探针和常规染色体核型分析检测50例按WHO2008标准诊断MDS患者染色体异常克隆,随访患者MDS进展为急性白血病情况。结果表明:50例MDS患者FISH和常规染色体核型分析显示,二种检测涉及5、7、20、8号以及Y染色体的遗传学异常分别占50.0%(25/50)和40.0%(20/50),累及5号染色体异常均为6.0%(3/50),累及7号染色体异常分别为26.0%(13/50)和20.0%(10/50),累及20号染色体异常分别为12.0%(6/50)和6.0%(3/50),累及8号染色体异常分别为24.0%(12/50)和20.0%(10/50),Y染色体缺失均为2.0%(1/50)。染色体异常检出率为:7号染色体>8号染色体>20号染色体>5号染色体>Y染色体。47例患者接受造血干细胞移植情况:IPSS细胞遗传学不良组46.2%(6/13)为转白血病前移植;良好组45.5%(10/22)为转白血病前移植;中间组有16.7%(2/12)为转白血病前移植。MDS进展为急性白血病率,预后不良组为7.7%(1/13),预后良好组为4.5%(1/22),细胞遗传学预后中等组为58.3%(7/12)。预后不良组进展为急性白血病者比例很低,与该组多数患者接受了异基因造血干细胞移植有关。结论:成套的FISH探针比常规染色体核型对特定的染色体异常检出率高,尤其对低克隆的染色体异常和常规染色体核型分析少于20个分裂相时优势明显。IPSS染色体核型预后分组显示预后良好组和预后不良组无差异,其原因可能是受异基因造血干细胞移植的影响。This study was purposed to compare detectable rate of cytogenetic abnormalities including - 5/5q -, -7/7q -, 20q -, ＋ 8, and -Y in MDS by FISH and metaphase cytogenetics, and to investigate the relationship between cytogenetic abnormalities and progression from MDS to acute leukemia. Metaphase cytogenetics and FISH testing for - 5/5q -, -7/7q -, 20q-, ＋ 8, and -Y were performed in 50 bone marrow samples obtained from patients with MDS diagnosed according to the WHO criteria （2008）. Evolution from MDS to AML was followed up for each patient. The results showed that the cytogenetic abnormalities including -5/5q-, -7/7q-, 20q-, ＋ 8, and -Y were identified in 25 （50%） of 50 by metaphase cytogenetics, and in 20 （40%） of 50 by FISH. - 5/5q - ,7/7q - , 20q- , ＋ 8, or - Y was identified by metaphase cytogenetics in 3 （ 6% ） of 50, 13 （26%） of 50, 6 （ 12% ） of 50, 12 （ 24% ） of 50, and 1 （2%） of 50, respectively, and by FISH in 3（6%） of 50, 10（20%） 0f50, 3（6% ） of 50, 10（20% ） of 50, and 1 of 50 （2%）, respectively. The detectable rate ranking was -7/7q - 〉 ＋ 8 〉20q- 〉 -5/5q- 〉-Y. 47 patients received al- logeneic hematopoietic stem cell transplantation. In the IPSS poor prognosis group, 6（46.2% ）of 13 received transplan- tation before progression to acute leukemia. In the IPSS good prognosis group, 10（45.5% ） of 22 received transplanta- tion before progression to acute leukemia. In the IPSS intermediate prognosis group, 2 （ 16.7% ） of 12 received transplantation before progression to acute leukemia. The rate of progression to acute leukemia was 7.7% （ 1/13 ） in the IPSS poor prognosis group, 4.5% （1/22） in the IPSS good prognosis group, and 58.3% （7/12） in the IPSS intermediate prognosis group. The low rate of progression to acute leukemia in the IPSS poor prognosis group might be associated with the high rate of allogeneic hematopoietic stem transplantation. It is concluded that there is higher detectable rate for detecting a ce

关 键 词：荧光原位杂交 常规染色体核型分析 骨髓增生异常综合征 细胞遗传学异常 

分 类 号：R733.3[医药卫生—肿瘤]