骨髓增生异常综合征的遗传学检测研究进展

Progress of Cytogentic Detection in Myelodysplastic Syndromes ——Review

随着骨髓增生异常综合征(myelodysplastic syndrome,MDS)发病机制的研究不断取得进展、治疗手段的不断创新和新技术的运用,细胞遗传学检测在MDS临床中的地位越来越凸显。近来MDS细胞遗传学检测的研究进展十分显著,基于间期细胞遗传学(MC)法的细胞遗传学特征对于MDS的预后意义逐步得到阐明,某些少见类型的细胞遗传学异常如12p-、11q-、+21、t(11(q23))等的预后意义也得以明确。而随着SNP及CGH法运用于MDS的细胞遗传学检测,MDS遗传学的异常检出率进一步得到提高,最高可达78%。同时对于MC法检测为"正常核型"的MDS患者,经SNP或CGH法检出有隐性异常者较没有隐性异常的患者的预后更差。本文就基于MC法的MDS细胞遗传学研究进展和基于SNP-A和aCGH法的MDS遗传学研究进展进行了综述。

In recent years,significant progresses have been got in study on pathogenesis,treatment and prognosis of myelodysplastic syndromes（MDS）,especially on use of new technology, that has great importance for cytogenetcs of MDS.Recently,the progress of cytogenetic detection in MDS is very remarkable.Based on the metaphase cytogenetics（MC） method, prognostic significance of cytogenetics in MDS was clarified gradually.For example,people have known the prognostic significance of 12 p-,11 q-,＋21,t（11（q23））,although these genetic abnormalities are rare in the MDS.In addition,chromosome mutation emerged in the process of MDS may indicate the poor prognosis.On the other hand,with the use of SNP-A and aCGH in the study of genetics,MDS cytogenetic abnormality detection rate has been further improved and can reach to 78%.At the same time,some of MDS patients with the ＂normal karyotype＂ detected by MC have new hidden aberrations through the SNP or CGH detection,and these patients have a poorer prognosis.In this review,the advances of study on cytogenetic detection for MDS based on MC and SNP-A or aCGH methods are summarized.