骨髓增生异常综合征142例染色体核型分析  

MYELODYSPLASTIC SYNDROMES:CHROMOSOMAL KARYOTYPE ANALYSIS OF 142 CASES

作　　者：韩乐乐[1] 吴春梅[1] 

机构地区：[1]青岛大学医学院血液病学教研室,山东青岛266071

出　　处：《青岛大学医学院学报》2014年第3期227-229,232,共4页Acta Academiae Medicinae Qingdao Universitatis

摘　　要：目的分析骨髓增生异常综合征(MDS)病人的染色体核型特点,并探讨不同亚型与染色体异常核型的关系及意义。方法连续收集MDS病人142例,根据WHO分类标准进行分型,采用短期培养法及R显带技术分析染色体核型特点。结果所有病例中76例存在异常核型,其检出率为53.5%,各亚型间异常核型检出率比较差异无显著性(P>0.05)。常见异常核型为+8(12.0%)、20q-(5.6%),而5q-仅1例,涉及12号染色体异常病人13例。预后分组中RCMD型在中危-2组中的比例明显低于RAEB-1型和2型,差异均有显著性(χ2=8.827、5.329,P<0.05)。结论染色体核型分析结合形态学检查对于MDS的诊断、鉴别诊断及预后评估具有重要参考价值。12号染色体异常常发生于MDS常见畸变之后,可能与MDS的进展有关。Objective To analyze the characteristics of chromosomal karyotype in patients with myelodysplastic syndromes （MDS）, explore the relationship between different subtypes and abnormal chromosome karyotype and its significance. Methods A total of 142 patients with MDS were consecutively collected and classified according to the WHO classification standards, the chromosome karyotype was detected by R banding. Results Of all the patients enrolled, 76 showed abnormal karyotype, the detection rate being 53.5%, the differences between each subtype were not significant with regard to abnormal karyotype detection rate （P〉0.05）. ＋8（12.0%）, and 20q-（5.6%） were common abnormal karyotypes in this study, and 5q-was seen in only one, 13 cases involved in abnormal chromosome 12. According to prognostic grouping, the proportion of RCMD type in moderate-2 group was obviously lower than the proportion of RAEB-1 and 2, the differences were statistically significant （χ^2=8.827,5.329;P〈0.05）. Conclusion Karyotype analysis in combination with morphological examination has an important value for diagnosis, differential diagnosis and prognostic prediction of myelodysplastic syndromes. The abnormal chromosome 12 often occurs after distortion of myelodysplastic syndromes, which is likely to be related to the progression of the condition.

关 键 词：骨髓增生异常综合征 核型分析 预后 

分 类 号：R551.3[医药卫生—血液循环系统疾病]