Combining gene variants with clinical characteristics improves outcome prediction in Chinese patients with myelodysplastic syndromes
Combining gene variants with clinical characteristics improves outcome prediction in Chinese patients with myelodysplastic syndromes
复制标题
将基因变异与临床特征相结合可改善中国骨髓增生异常综合征患者的预后预测
DOI：
10.1080/10428194.2019.1702177
复制
发表时间：
2019-12-13
影响因子：
2.6
通讯作者：
Sun, Aining
中科院分区：
文献类型：
--
作者：
Yu, Yan;Zhang, Tongtong;Sun, Aining
遗传变异已在大多数骨髓增生异常综合征（MDS）患者中发现，并对MDS的诊断、分类、危险分层和治疗产生了重大影响。为了探索基因组变异的预后意义并建立新的预后评分模型，我们对499例中国MDS患者的51个已知基因进行了新一代测序。最终将TP 53、GATA 2、DNMT 3A、年龄和修订后的国际预后评分系统（IPSS-R）风险分层纳入新的考克斯模型中并分为3个预后类别，并对总生存期有更好的预测。新预后评分模型的C指数（0.772）明显优于IPSS-R风险分层（0.717），后者在163例病例中得到验证。此外，新模型也适用于异基因造血干细胞移植患者OS的预测。将基因组变异和年龄纳入IPSS-R可以改善MDS患者的预后算法。
Genetic variants have been identified in the majority of myelodysplastic syndromes (MDS) patients and have considerably influenced the diagnosis, classification, risk stratification and treatment of MDS. To explore the prognostic significance of genomic variants and build a new prognostic scoring model, we performed next-generation sequencing of 51 known genes in 499 Chinese patients with MDS. Ultimately, the TP53, GATA2, DNMT3A, age and the revised International Prognostic Scoring System (IPSS-R) risk stratification were included in a new Cox model and divided into three prognostic categories, and had a better prediction of overall survival. The C-index of the new prognostic scoring model (0.772) was clearly better than IPSS-R risk stratification (0.717), which was validated in 163 cases. Moreover, the new model was also suitable for the prediction of OS for patients undergoing allogeneic hematopoietic stem cell transplantation. The inclusion of genomic variants and age into the IPSS-R could improve prognostic algorithms for MDS patients.