281例骨髓增生异常综合征患者染色体核型分析及临床意义的研究

Study on Chromosome Karyotype and Its Clinical Significance in 281 Cases of Myelodysplastic Syndromes

目的：探讨骨髓增生异常综合征（MDS）患者染色体核型异常特征及其与临床预后的关系。方法采用染色体常规 G 显带技术，对281例 MDS 患者进行细胞遗传学核型分析。结果281例 MDS 患者中，染色体异常核型检出率48.75％（137／281），其中单纯染色体数目异常43.07％（59／137），单纯染色体结构异常者31.39％（43／137），同时有数目与结构异常者25.54％（35／137）。MDS 亚型中，RAEB-2异常核型检出率为63.41％（26／41），RAEB-1为58.73％（37／63）， RCMD 39.2％（49／125），RAS 15.38％（2／13），RA 22.58％（7／31）。RA，RAS 异常核型检出率明显低于 RAEB-1和RAEB-2（P ＜0.01），RAEB-1和 RAEB-2检出率高于 RCMD（P ＜0.05）。出现频率较高的染色体畸变依次为＋8，-7／7q-，-20／20q-，复杂异常核型，染色体易位，i（17），－Y，＋21等。随访的159例 MDS 患者中核型正常者68例，中位生存时间为39个月，核型异常者91例中位生存期21个月的，前者明显长于后者（P ＜0.05），分析白血病转化率，核型异常者（35.5％），明显高于核型正常者（10.3％）（P ＜0.01），其中以复杂核型、-7／7q-核型较易转为白血病。结论MDS 系克隆性恶性血液病，具有高度异质性，染色体核型检查对 MDS 的正确诊断、分型和预后判断具有重要意义。

Objective To explore the abnormal karyotype characteristics of myelodysplastic syndrome （MDS）patients and their correlation with clinical prognosis.Methods Analyzed the karyotypes of 281 MDS patients by use of G-banding tech-nique.Results Through analysis of the karyotypes of 281 MDS patients,found that the percentage of abnormal karyotypes was 48.75% （137/281）,among 137 patients with abnormal karyotypes,43.07% （59 cases）presented with numerical aber-ration,31.39% （43 cases）with structural aberration,and 25.54% （35 cases）with both numerical and structural abnormali-ties.As for MDS subtypes,the occurrence rate of abnormal karyotype was 63.41% （26/41）in RAEB-2,58.73% （37/63）in RAEB-1,39.2% （49/125）in RCMD,15.38% （2/13）in RAS and 22.58% （7/31）in RA.The rates of abnormal karyotype in RAEB-1 and RAEB-2 were significantly higher than that in RA and RAS（P〈0.01）,and in RCMD （P 〈0.05）.The fre-quent abnormal karyotypes were as follows：＋8,-7/7q-,-20/20q-,complex karyotypes chromosomal translocation,i（17）,-Y and ＋21.The follow-up study of 159 MDS patients indicated that the median survival time was 39 months for 68 patients with normal karyotypes and 21 months for 91 patients with abnormal karyotypes,the former was significantly prolonged than the latter （P 〈 0.05）.As far as the leukemia transition rate was concerned,the patients with aberrant karyotypes （35.5%）were significantly higher than that with normal karyotypes （10.3%）（P 〈 0.01）,among them,the cases with complex karyotypes and-7/7q-more easily transit into leukemia.Conclusion MDS was one kind of clonal hematological ma-lignancy with high heterogeneity.Chromosomal karyotype test plays an important role in the correct diagnosis,typing and prognosis evaluation of MDS.