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[骨髓增生异常综合征的细胞遗传学检测进展]

[Progress of cytogenetic detection in myelodysplastic syndromes].

作者信息

Zhou Qing-Bing, Hu Xiao-Mei, Liu -Feng, Ma Rou

机构信息

Department of Hematology, China Academy of Chinese Traditional Medical Sciences, Beijing, China.

出版信息

Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2011 Dec;19(6):1536-40.

Abstract

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 cytogenetics 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.

摘要

近年来,骨髓增生异常综合征(MDS)在发病机制、治疗及预后等方面的研究取得了显著进展,尤其是新技术的应用,这对MDS的细胞遗传学研究具有重要意义。近期,MDS细胞遗传学检测进展十分显著。基于中期细胞遗传学(MC)方法,MDS细胞遗传学的预后意义逐渐得以阐明。例如,人们已了解到12p-、11q-、+21、t(11(q23))的预后意义,尽管这些基因异常在MDS中较为罕见。此外,MDS过程中出现的染色体突变可能提示预后不良。另一方面,随着单核苷酸多态性阵列分析(SNP-A)和比较基因组杂交(aCGH)在遗传学研究中的应用,MDS细胞遗传学异常检测率进一步提高,可达78%。同时,一些经MC检测为“正常核型”的MDS患者通过SNP或CGH检测发现有新的隐匿性畸变,且这些患者预后较差。本文综述了基于MC以及SNP-A或aCGH方法的MDS细胞遗传学检测研究进展。

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