文章：

在修订的国际预后评分系统中纳入五个基因的突变，可改善骨髓增生异常综合征患者的风险分层

Incorporation of mutations in five genes in the revised International Prognostic Scoring System can improve risk stratification in the patients with myelodysplastic syndrome

原文发布日期：2018-04-04

DOI: 10.1038/s41408-018-0074-7

类型: Article

开放获取: 是

英文摘要：

Gene mutations have not yet been included in the 2016 WHO classification and revised International Prognostic Scoring System (IPSS-R), which are now widely utilized to discriminate myelodysplastic syndrome (MDS) patients regarding risk of leukemia evolution and overall survival (OS). In this study, we aimed to investigate whether integration of gene mutations with other risk factors could further improve the stratification of MDS patients. Mutational analyses of 25 genes relevant to myeloid malignancies in 426 primary MDS patients showed that mutations of CBL, IDH2, ASXL1, DNMT3A, and TP53 were independently associated with shorter survival. Patients within each IPSS-R or 2016 WHO classification-defined risk group could be stratified into two risk subgroups based on the mutational status of these five genes; patients with these poor-risk mutations had an OS shorter than others in the same risk group, but similar to those with the next higher risk category. A scoring system incorporating age, IPSS-R and five poor-risk mutations could divide the MDS patients into four risk groups (P < 0.001 for both OS and leukemia-free survival). In conclusion, integration of gene mutations in current IPSS-R improves the prognostication of MDS patients and may help identify high-risk patients for more aggressive treatment in IPSS-R lower risk group.

摘要翻译： 

基因突变尚未被纳入2016年WHO分类标准和修订版国际预后积分系统（IPSS-R）——这些标准目前被广泛用于评估骨髓增生异常综合征（MDS）患者白血病转化风险及总生存期（OS）。本研究旨在探讨将基因突变与其他风险因素整合能否进一步改善MDS患者的风险分层。通过对426例原发性MDS患者进行25种髓系肿瘤相关基因的突变分析，发现CBL、IDH2、ASXL1、DNMT3A和TP53基因突变与较短生存期独立相关。在IPSS-R或2016年WHO分类定义的各风险组内，根据这五种基因的突变状态可将患者进一步划分为两个风险亚组：携带这些不良预后突变患者的OS短于同风险组其他患者，但与更高一级风险组患者相当。整合了年龄、IPSS-R评分及五种不良预后突变的评分系统可将MDS患者划分为四个风险组（OS与无白血病生存期的P值均<0.001）。综上，将基因突变整合至现行IPSS-R系统能改善MDS患者的预后判断，有助于在IPSS-R低危组中识别需要强化治疗的高危患者。

原文链接：

Incorporation of mutations in five genes in the revised International Prognostic Scoring System can improve risk stratification in the patients with myelodysplastic syndrome