病态造血细胞与细胞遗传学改变对骨髓增生异常综合征诊断及分型的意义

Significance of dysplasia and cytogenetic changes on the diagnosis and typing of myelodysplastic syndrome

目的探讨病态造血细胞与细胞遗传学改变对骨髓增生异常综合征（MDS）诊断及分型的意义。方法对133例MDS患者行常规骨髓穿刺及外周血涂片瑞特染色，观察MDS各亚型各系列细胞的病态造血特点；同时行染色体核型分析，并结合病态细胞与染色体核型异常改变，分析MDS各亚型与之关联。结果以检出病态细胞≥0．10为界，粒、红、巨核三系总检出率为43．4％，对低危[难治性贫血（RA）＋难治性贫血伴有环铁粒幼红细胞（RARS）]、中危【难治性血细胞减少伴有多系发育异常（RCMD）]及高危[难治性贫血伴有原始细胞过多（RAEB）]三组进行比较，病态粒细胞及病态巨核细胞≥0．10者主要见于RCMD（P〈0．01），病态红细胞≥0．10者主要见于RA＋RARS（P〈0．01）。MDS染色体核型异常总检测率44．0％，虽异常核型检出率RA及RARS组低于其他各亚型，但差异无统计学意义（P〉0．05）。病态细胞及染色体核型异常检出与MDS亚型间关系表现为：RA组核型异常且同时具有病态细胞≥0．10者占50．0％（3／6），RCMD组占76．0％（19／25），RAEB组占60．9％（14／23）（P〈0．01）。结论染色体核型异常同时具有病态细胞〉10．10者显示与MDS亚型有关联；密切监测造血及细胞遗传学改变对确诊MDS有帮助。

Objective To explore the significance of dysplasia and cytogenetic changes to the diagnosis and typing of myelodysplastic syndrome （MDS）. Methods The dysplasia performance of each series in every isoforms was observed by the bone manow aspiration and peripheral blood smear to the 132 patients with MDS. At the same time do the chromosome karyotype was analizad combined with morbidness cells and chromosome karyotype abnormal analysis associated with MDS subtype. Results Acorrding to the dysplasia≥0.10, the totle detection rate of granulocyte series, erythrocyte series and megakaryocytic was 43.4 %. The morbidness granulocyte and megalokaryocyte ≥0.10was mainly in RCMD （P 〈 0.01）; morbidness erythrocytes≥0.10 mainly in RA ＋ RARS （P 〈 0.01）. the totle detection rate of chromosome karyotype abnormal in MDS was 44.0 %. The detection rate in RA and RARS was lower than other isoforms, but showed no statistically significant （P 〉 0.05）. the relationships of dysplasia and chromosome karyotype abnormal wlth the isoforms of MDS：in RA group, 50.0 %（3/6） patients had karyotype abnormal simultaneous the detection of morbidness cells ≥ 0.10, 76.0 %（19/25） in RCMD group and 60.9 %（14/23） in RAEB group （P 〈 0.01）. Conclusion Theve is relationships between the patients with chromosome karyotype abnormal and dysplasia≥0.10 and the isoforms of MDS. Closely monitoring the hemopoiesis and cytogenetic changes is significance to diagnose MDS.