细胞遗传学正常的急性髓系白血病分子生物学预后因素研究进展  

Advances of Study on Prognostic Factors of Molecular Biology in Acute Myeloid Leukemia with Normal Cytogenetics——Review

作　　者：韩天洁[1] 许小平[1] 

机构地区：[1]复旦大学华山医院血液科,上海200040

出　　处：《中国实验血液学杂志》2010年第4期1063-1068,共6页Journal of Experimental Hematology

摘　　要：急性髓性白血病(AML)是一组高度异质性疾病,随着细胞遗传学研究的进展,人们发现AML伴有重现性染色体结构的变异不仅是特定AML亚型的诊断标志,也是判断疾病缓解、复发危险以及总生存率的重要预后因素。然而,应用现有的染色体分析技术,目前仍然有大约40%-49%的成人AML患者和25%的儿童AML患者中在显微镜下未能被观察到有染色体核型异常。这些所谓的细胞遗传学正常的AML(cytogenetically normal acute myeloid leukemia,CN-AML)患者通常被划分在中等预后组。但临床研究发现,这些CN-AML患者临床结局并非一致,其原因是CN-AML患者存在不同的基因变异。这些分子生物学水平的变异不仅可为CN-AML的进一步分类提供依据,而且还与这部分患者的预后存在密切关系,同时也为研究分子靶向治疗提供了潜在的靶位。本文就国外在该领域的研究进展作一综述,讨论的问题包括有:提示预后不良的基因变异;Baalc基因和ETS相关基因的过度表达;Wilms肿瘤基因变异;提示预后良好的基因变异,其中又包括核仁磷酸蛋白基因变异和混合系列白血病基因部分串联重复;最后讨论的问题是CCAAT/增强子结合蛋白α基因突变。Acute myeloid leukemia（AML） is a group of diseases with a conspicuous heterogeneity. Following the development of cytogenetics, multiple reproducible chromosome aberrations have been discovered in AML, many of which not only are diagnostic markers for specific AML subtypes but also significant prognostic factors for determing complete remission （CR）, relapse risk, and overall survival （OS）. However, with the foundation of available chromosome analysis, a large group of acute myeloid leukemia （AML） patients, 40% to 49% of adults and 25% of children had not been found abnormality of chromosome karyotype under microscorpe. These so-called cytogenetically normal acute myeloid leukemia （ CN-AML ） patients have usually been classified in an intermediate-risk prognostic category. Nevertheless,the outcome of the CN-AML patients are varied in clinical studies, likely because there exist diverse gene mutations in these patients according to recent researches. Those mutations at the molecular level, on basis of which AML could be furthedy classified, are significantly associated with CN-AML patients and offer potential targets for specific therapeutic studies. The review focuses on research advances abroad in this field including gene mutations suggesting bad prognosis such as FMS-related tyrosine kinase 3 gene mutation, Baalc gene and ETS-related gene hyperexpression, Wilms＇ tumor gene mutation and other gene mutations as well as gene mutations suggesting good prognosis such as nucleophosmin gene mutation, mixed lineage leukemia-partial tandem duplication, CCAAT/enhancer- binding protein α gene mutation.

关 键 词：急性髓系白血病 细胞遗传学 分子生物学 预后因素 

分 类 号：R733.71[医药卫生—肿瘤]