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

目的：报道2例伴有t(3；5）（q25；q34）的骨髓增生异常综合征（MDS）。方法：骨髓细胞24h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：46，XY，t(3；5）（q25；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）（q25；q34）是一种少见的核型异常，它和MD有特别的联系，常有涉及三系的病态造血改变；染色体涂染技术是检测该易位的可靠手段。

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

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.