染色体核型分析在骨髓增生异常综合征中的应用

Application of Karyotype Analysis in Myelodysplastic Syndrome(MDS)

目的探讨染色体核型分析在骨髓增生异常综合征(M DS)诊断、预后评估中的价值。方法对112例M DS患者的染色体核型情况进行回顾性分析。结果112例M DS中,染色体核型异常者57例,占50.9%,主要累及+8,-7/7q-,-5/5q-,-y,20q-及其它涉及数量或结构异常的各种核型改变,其中-7/7q-和复杂核型异常的M DS易发生克隆转化,易进展为急性白血病;5例初诊为良性血细胞减少的患者经染色体核型分析,发现有克隆性细胞遗传学异常,最终确诊为M DS。结论染色体核型分析在M DS诊断、预后评估方面具有重要价值,特别在原始细胞比例不高、病态造血不明显的M DS-RA或M DS-RCM D时,核型分析对疾病的诊断及预后估计起决定作用。

objective To explore the value of karyotype analysis in MDS for diagnosis,cure and prognosis. Methods The karyotype analysis was retrospectively performed for 112 patients with MDS. Results Among 112 patients, 57 were found with abnormal karyotype. The abnormal rate was 50. 9 %. They mainly showed ＋ 8, - 7/7q-, - 5/5q-, - y, 20q- and other abnormalities in quantity or structure. The MDS patients with -7/7q- and complicated karyotype abnormalities tended to take place clonal transformation and deteriorate acute leukemia. 5 patients that preliminary diagnosis were benign hypocellular were found clonally cytogenetic abnormalities by karyotype analysis and confirmed MDS finally. Conclusion The karyotype analysis is very important for diagnosis,cure and prognosis of MDS especially when blast cell are few and the dyshaematopoiesis of MDS-RA or MDS-RCMD is atypical.