染色体分析在骨髓增殖性疾病诊断及治疗中的应用

目的探讨染色体分析对骨髓增殖性疾病（MPD）分类、诊断及疗效判断的临床意义。方法收集MPD病人骨髓,采用R显带技术,检测染色体核型,并对部分病人进行动态观察。结果 159例MPD病人中染色体异常的检出率为69.18%,其中122例慢性粒细胞白血病（CML）病人中,染色体异常的检出率为85.25%（104/122）,37例初诊为其他类型的MPD病人中,染色体异常的检出率为16.22%（6/37）。CML慢性期病人出现额外染色体异常的比例为14.42%,加速期和急变期的比例为61.11%,两者比较差异有显著意义（2χ=15.228,P〈0.01）。CML病人应用伊马替尼治疗与骨髓移植治疗后Ph染色体转阴率没有明显差异。结论染色体分析对MPD的分型、诊断及疗效判断具有重要意义;额外染色体异常的出现与CML病人的病程进展密切相关。

APPLICATION OF CHROMOSOME ANALYSIS IN THE DIAGNOSIS AND TREATMENT OF MYELOPROLIFERATIVE DISORDER

Objective To investigate the clinical significance of chromosome analysis in classification,diagnosis and assessment of curative effect of myeloproliferative disorder（MPD）. Methods Bone marrow of patients with MPD was collected,and the caryotype detected by R-banding,and dynamic observation carried out in some patients. Results Of 159 MPD patients,the detection rate of chromosomal abnormality was 69.18%,which was 85.25%（104/122） in 122 cases of chronic myelogenous leukemia（CML）;in 37 patients with other types of MPD,the detection rate being 16.22%（6 /37）.The rate of extra chromosome was found in 4.42% of CML patients at chronic phase,and 61.11% at accelerated and acute transformation phase,the difference between the patients of two phases was significant（χ2=15.228,P〈0.01）.Ph chromosome negative rate was not changed much in CML patients after Gleevec therapy and bone marrow transplantation. Conclusion Chromosome analysis is of important significance in grouping,diagnosing,and estimating therapeutic effect of MPD;the appearance of abnormality of extrachromosome is closely related with the course of CML.