MDS病态造血与染色体核型的相关性研究

摘要

目的:本研究旨在探讨骨髓增生异常综合征(myelodysplastic syndrome,MDS)病态造血与染色体核型的相关性.方法:回顾性分析了我院69例原发性MDS患者的染色体核型及病态造血结果,对不同染色体核型的粒、红、巨三系病态造血的检出数和阳性率进行比较分析.结果:MDS染色体异常发生率为44.9％,异常核型发生率由高到低依次为7q-、+8、复杂核型、20q-及5q-,粒系形态异常中胞浆颗粒减少检出数和阳性率在7q-及复杂核型中均明显升高,与正常核型、+8、20q-比较均存在统计学差异;假性Pelger-huet畸形检出数与阳性率在7q-及复杂核型中升高,且与正常核型、+8比较存在统计学差异;红系微核检出数与阳性率在+8中升高,与正常核型及20q-比较存在统计学差异;淋巴样小巨核检出数及阳性率在7q-及复杂核型升高,与正常核型比较有统计学意义,但与+8及20q-比较无统计学意义.其余病态造血在不同染色体核型间无明显差异.结论:粒系胞浆颗粒减少或缺如、假性Pelger-huet畸形及淋巴样小巨核与7q-及复杂核型关系密切,红系微核可能与+8有关,关于MDS染色体核型与病态造血之间的相关性及其具体机制还需进一步研究.%Objective:To study the correlation of chromosome karyotype with dysplasia in myelodysplastic syndrome (MDS).Methods:We retrospectively analyzed the data of 69 cases of primary MDS and compared occurrences and extent of dysplasia features in different karyotypes.Results:The occurrence of abnormal karyotypes was 44.9％, with 7q-, + 8, complex karyotype, 20q-and 5q-in descending order.The occurrences and positive rates of hypogranulation and pseudo-Pelger-huet neutrophils rose in 7q-and complex karyotype, with significant difference compared with normal karyotype, + 8 and 20q-in hypogranulation,and normal karyotype and + 8 in pseudo-Pelger-huet neutrophils.+ 8 had statistical differences in erythroid micronuclei compared with normal karyotype and 20q-.Significant difference existed in occurrence and extent of micromegakaryocytes in 7q-and complex karyotype compared with normal karyotype but not with + 8 and 20q-.There were no differences of other dysplasia in different karyotypes.Conclusion:It was concluded that hypogranulation, pseudo-Pelger-huet neutrophils and micromegakaryocytes had close relationship with 7q-and complex karyotype, and erythroid micronuclei may be correlated with + 8.More researches were needed to investigate the relations of chromosome karyotype and dysplasia and its mechanism.