骨髓增生异常综合征中分子遗传学异常的研究进展  

Research Advances of Molecular Genetic Abnormality in Myelodysplastic Syndrome

作　　者：庞艳彬[1] 吴萍 化罗明[1] 杜欣 王静[1] PANG Yan-Bin;WU Ping;HUA Luo-Ming;DU Xin;WANG Jing(l Department of Hematology,The Afilliatied Hospital of Hebei Universtity,Baoding 071000,Hebei Provinee,China;Department of He-matology,Guangdong Provincial People Hospital/Guangdong Provincial Academy of Medical Sciences,the Medical School of South China University of Technology,Guangzhou 510080,Guangdong Province,China)

机构地区：[1]河北大学附属医院血液内科,河北保定071000 [2]广东省人民医院/广东省医学科学院华南理工大学医学院血液内科,广东广州510080

出　　处：《中国实验血液学杂志》2018年第4期1248-1252,共5页Journal of Experimental Hematology

摘　　要：骨髓增生异常综合征(MDS)以无效造血并伴有向急性髓系白血病(AML)转化的风险为特点,是一组高度异质性克隆性髓系疾病。MDS的治疗效果的评估高度依赖于预后评估模型。目前使用的预后评估系统是由形态学、临床特点和细胞遗传学构成,但并不包括分子遗传学数据。因此,不能预测患者对分子靶向药物的治疗反应,如去甲基化药物。随着全基因组测序技术的进展,越来越多的研究发现,大量基因突变与MDS的发生、发展、特定的治疗反应和新的靶向治疗有关,正在进一步阐明MDS的异质性,同时推进MDS精准化治疗的发展。然而,分子遗传学在临床上的应用仍面临挑战,如果能够解决这些问题,分子遗传学将进一步为精准医疗在MDS中的应用提供理论依据。The myelodysplastic syndromes（ MDS） are a heterogeneous group of clonal myeloid disorders characterized by ineffective hematopoiesis and increased risk of transformation to acute myelogenous leukemia（ AML）.The treatment of MDS is highly dependent on the reliability of the prognostic evaluation model. Current clinical prognostic scoring systems are comprised of morphology,pivotal clinical trials and cytogenetic findings. However,none of the available prognostic systems incorporates disease-related molecular abnormalities,such as somatic mutations.Cumulative evidence suggests that genomic data can also be used clinically to assist the diagnosis,prognosis,prediction of response to specific therapies,and the development of novel and accurate targeted therapies. Therefore,it is not possible to predict the response of patients to molecular targeted drugs,such as demethylation drugs. With the recent advance in whole-genome sequencing technologies,cumulative evidence suggests that genomic data can also be associated with the genesis,prognosis,prediction of response to specific therapies,and the development of novel accuvate targeted therapies,the issue of having some mechanism to dissect this heterogeneity and precision treatment is coming to the fore. However,there are still several hindrances to its clinical application. If these problems can be solved,molecular genetics will further provide a theoretical basis for the application of precision medicine in MDS.

关 键 词：骨髓增生异常综合征 基因突变 靶向治疗 分子遗传学 

分 类 号：R551.3[医药卫生—血液循环系统疾病]