112例骨髓增生异常综合征细胞遗传学分析

摘要

Objective:To investigate the clinical cytogenetic features and prognosis of myelodysplastic syndrome. Methods: A retrospective analysis was conducted on 112 patients diagnosed with MDS on basis of FAB and WHO criterion. Conventional cytogenetics and fluorescence in situ hybridization were performed to investigate the cytogenet-ics features. Results: Karyotype abnormalitie were found in 46 (41.1%) patients, including 40(35. 7% ) single clo-ning abnormalitie,9(8.0% ) double abnormalities, 17 (15.2% ) complex abnormalitie. Trisomy 8 was the most fre-quent abnormalitie, accounting for 26. 7%. Conclusion; There is no obvious correlation between chromosomal ab-normalities and WHO classification , but it is more common that complex karyotype happens in RAEB - I and RAEB - Ⅱ.%目的:探讨中国辽宁骨髓增生异常综合征(myelodysplastic syndrome,MDS)患者细胞遗传学异常特征.方法:回顾性分析2010年至2012年根据FAB及WHO标准诊断为MDS的112例患者.采用传统细胞遗传学(conventional cytogenetics,CG)及荧光原位杂交(fluorescence in situ hybridization,FISH)研究其分子遗传学改变.结果:112例患者中具有克隆性染色体异常46例,占41.1％.具有单独异常克隆40例(35.7％),两个异常克隆9例(8.0％),三个及以上异常克隆17例(15.2％);其中+8最常见,占26.8％.结论:染色体异常核型与WHO分型没有明显的相关性,但是复杂核型在RAEB-Ⅰ及RAEB-Ⅱ中更常见.