MDS病态造血与染色体核型的相关性研究

Correlation of chromosome karyotype with dysplasia in myelodysplastic syndrome

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 hy- pogranulation 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 com- pared with normal karyotype but not with ＋ 8 and 20q -. There were no differences of other dysplasia in different kar- yotypes. Conclusion： It was concluded that hypogranulation, pseudo - Pelger - huet neutrophils and micromegakaryo- cytes 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.