Incorporation of mutations in five genes in the revised International Prognostic Scoring System can improve risk stratification in the patients with myelodysplastic syndrome.
Incorporation of mutations in five genes in the revised International Prognostic Scoring System can improve risk stratification in the patients with myelodysplastic syndrome.
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DOI：
10.1038/s41408-018-0074-7
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发表时间：
2018-04-04
影响因子：
12.8
通讯作者：
Tien HF
中科院分区：
文献类型：
--
作者：
Hou HA;Tsai CH;Lin CC;Chou WC;Kuo YY;Liu CY;Tseng MH;Peng YL;Liu MC;Liu CW;Liao XW;Lin LI;Yao M;Tang JL;Tien HF
基因突变尚未纳入 2016 年 WHO 分类和修订后的国际预后评分系统 (IPSS-R)，该系统目前广泛用于区分骨髓增生异常综合征 (MDS) 患者的白血病进展风险和总生存 (OS)。在本研究中，我们旨在研究基因突变与其他危险因素的整合是否可以进一步改善MDS患者的分层。对 426 名原发性 MDS 患者中与骨髓恶性肿瘤相关的 25 个基因进行的突变分析表明，CBL、IDH2、ASXL1、DNMT3A 和 TP53 的突变与较短的生存期独立相关。每个 IPSS-R 或 2016 WHO 分类定义的风险组内的患者可以根据这五个基因的突变状态分为两个风险亚组；携带这些低风险突变的患者的 OS 比同一风险组中的其他患者短，但与下一个较高风险类别的患者相似。结合年龄、IPSS-R 和五种低风险突变的评分系统可以将 MDS 患者分为四个风险组（OS 和无白血病生存期的 P<0.001）。总之，当前IPSS-R中基因突变的整合改善了MDS患者的预后，并可能有助于识别高风险患者，以便在IPSS-R低风险组中进行更积极的治疗。
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.
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影响因子：
11.4
作者：
通讯作者：
--
影响因子：
12.8
作者：
Chen, T-C;Hou, H-A;Chou, W-C;Tang, J-L;Kuo, Y-Y;Chen, C-Y;Tseng, M-H;Huang, C-F;Lai, Y-J;Chiang, Y-C;Lee, F-Y;Liu, M-C;Liu, C-W;Liu, C-Y;Yao, M.;Huang, S-Y;Ko, B-S;Hsu, S-C;Wu, S-J;Tsay, W.;Chen, Y-C;Tien, H-F
通讯作者：
Tien, H-F
影响因子：
--
作者：
Hou HA;Liu CY;Kuo YY;Chou WC;Tsai CH;Lin CC;Lin LI;Tseng MH;Chiang YC;Liu MC;Liu CW;Tang JL;Yao M;Li CC;Huang SY;Ko BS;Hsu SC;Chen CY;Lin CT;Wu SJ;Tsay W;Tien HF
通讯作者：
Tien HF
影响因子：
20.3
作者：
Malcovati, Luca;Papaemmanuil, Elli;Cazzola, Mario
通讯作者：
Cazzola, Mario
影响因子：
6.5
作者：
Kulasekararaj, Austin G.;Smith, Alexander E.;Mufti, Ghulam J.
通讯作者：
Mufti, Ghulam J.