一例伴有t(1;18)(p31;p11)易位的骨髓增生异常综合征

A novel translocation t(1;18)(p31;p11) in a patient with myelodysplastic syndrome

目的报告一例伴有t(1;18)(p31;p11)的骨髓增生异常综合征(myelodysplasticsyndrome,MDS)。方法骨髓细胞24h培养后按常规方法制备染色体,采用R显带技术进行染色体核型分析;以1号和18号整条染色体涂染探针对其进行染色体涂染检测。结果常规细胞遗传学方法和染色体涂染分析均证实该患者具有t(1;18)(p31;p11)克隆性染色体异常。结论t(1;18)(p31;p11)易位是一种罕见的再现性染色体核型异常,在MDS中属于首次报道。

Objective To report a case of myelodysplastic syndrome(MDS) with t(1;18)(p31;p11). Methods Chromosome specimens were prepared by short-term culture of bone marrow cells. Karyotype analysis was made by R banding technique. Chromosome painting was performed using whole chromosome probes 1 and 18. Results Conventional karyotype analysis revealed t(1;18)(p31;p11) in this patient. Chromosome painting analysis confirmed this result. Conclusion The translocation of (1;18) was an unusual recurrent chromosome change and was reported on MDS for the first time.