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


ABSTRACT: 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?

SUBMITTER: Hou HA 

PROVIDER: S-EPMC5884776 | biostudies-literature | 2018 Apr

REPOSITORIES: biostudies-literature

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

Hou Hsin-An HA   Tsai Cheng-Hong CH   Lin Chien-Chin CC   Chou Wen-Chien WC   Kuo Yuan-Yeh YY   Liu Chieh-Yu CY   Tseng Mei-Hsuan MH   Peng Yen-Ling YL   Liu Ming-Chih MC   Liu Chia-Wen CW   Liao Xiu-Wen XW   Lin Liang-In LI   Yao Ming M   Tang Jih-Luh JL   Tien Hwei-Fang HF  

Blood cancer journal 20180404 4


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 mali  ...[more]

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