二例伴有t(3;5)(q25;q34)的骨髓增生异常综合征的临床和实验研究  

Clinical and experimental study of two cases of myelodysplastic syndrome with t(3;5)(q25;q34) translocation

作　　者：吴亚芳[1] 薛永权[1] 赵萌[2] 陈赛娟[2] 潘金兰[1] 陆定伟[1] 

机构地区：[1]苏州大学附属第一医院,江苏省血液研究所,215006 [2]上海第二医科大学,上海血液研究所

出　　处：《中华血液学杂志》2002年第6期304-306,共3页Chinese Journal of Hematology

摘　　要：目的　报道 2例伴有t(3;5 ) (q2 5 ;q34)的骨髓增生异常综合征 (MDS)。方法　骨髓细胞2 4h培养后按常规方法制备染色体 ,用R显带技术进行细胞遗传学分析 ,并以 3号和 5号染色体涂染探针进行荧光原位杂交 (FISH)检测。结果　 2例的临床和血液学改变符合MDS诊断 ;染色体核型分析揭示 2例患者均有一致的核型异常 :4 6 ,XY ,t(3;5 ) (q2 5 ;q34) ;其中 1例患者的双色FISH检测证实 1条3号染色体长臂和 1条 5号染色体长臂之间发生了相互易位。结论　t(3;5 ) (q2 5 ;q34)是一种少见的核型异常 ,它和MDS有特别的联系 ,常有涉及三系的病态造血改变 ;Objective To report two myelodysplatic syndromes (MDS) patients with t(3;5)(q25;q34). Methods Chromosome specimens were prepared by short term culture of bone marrow cells. Karyotype analysis was performed by R banding technique, chromosome painting (fluorescence in situ hybridization, FISH) by using whole chromosome 3 and 5 probes in case 1. Results The clinical and hematological findings were compatible with diagnosis of MDS. Karyotype analysis showed that both patients had identical t(3;5)(q25;q34) translocation. A reciprocal translocation between chromosomes 3q and 5q was proved by FISH in one patient. Conclusions t(3;5) translocation is a rare chromosome abnormality specifically associated with MDS and frequently displays trilineage dysplasia. Chromosome painting technique is a reliable tool for detecting this translocation.

关 键 词：易位 骨髓增生异常综合征 实验研究 染色体涂染 临床研究 

分 类 号：R551.3[医药卫生—血液循环系统疾病]