骨髓增生异常综合征基因突变与预后模型研究进展

Progress of gene mutations and prognostic models in myelodysplastic syndromes

骨髓增生异常综合征(MDS)是一种克隆性疾病,其特征是复杂的基因异常的积累,这些异常决定了疾病的表型、预后以及向急性髓系白血病转化的风险。不同表型的MDS患者临床表现和预后差异很大,总生存期在数月至数年不等。预后评分系统是重要的分层工具,目前的模型对于预测MDS患者预后非常有效,但这些模型的变量主要集中在骨髓和外周血分析,将基因突变添加到现有模型会提高整体预测能力。探寻将临床和基因组数据合并到一个复杂且高度精确模型中的最佳方法仍是一项正在进行中的工作,最终将建立一个全面的基因-临床模型,将基因组数据的使用转化为临床实践。文章结合第60届美国血液学会(ASH)年会相关报道就MDS的基因突变与预后模型研究进展进行综述。

Myelodysplastic syndromes (MDS) are clonal disorders characterized by the accumulation of complex genomic abnormalities that defined disease phenotype,prognosis,and the risk of transformation to acute myeloid leukemia.The clinical manifestations and prognosis of patients with different phenotypes are vary different,and the overall survival varies from several months to several years.Prognostic scoring systems are important staging tools that aided physicians in their treatment recommendations and decision-making and could help patients understand their disease trajectory and expectations.These models and others use mainly clinical variables that are obtained from bone marrow biopsy and peripheral blood measurements.Adding gene mutation data into current models might improve the total predictive power.The search for an optimal way to merge the clinical and genomic data in a sophisticated and highly accurate model remains a work in progress.A comprehensive geno-clinical model that could translate the use of genomic data into clinical practice would finally be established.This paper mainly introduces the progress of the gene mutations and prognosis models of MDS in the 60th American Society of Hematology (ASH) Annual Meetings were reviewed.