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

Journal
Blood Cancer Journal
Journal Volume
8
Journal Issue
4
Date Issued
2018
Author(s)
HSIN-AN HOU  
CHENG-HONG TSAI  
CHIEN-CHIN LIN  
WEN-CHIEN CHOU  
Kuo Y.-Y.
Liu C.-Y.
Tseng M.-H.
Peng Y.-L.
Liu M.-C.
Liu C.-W.
Liao X.-W.
LIANG-IN LIN  
MING YAO  
JIH-LUH TANG  
HWEI-FANG TIEN  
DOI
10.1038/s41408-018-0074-7
URI
https://www.scopus.com/inward/record.uri?eid=2-s2.0-85044835473&doi=10.1038%2fs41408-018-0074-7&partnerID=40&md5=ac59294fd1ca9bbc7a11a9a0727d0b32
https://scholars.lib.ntu.edu.tw/handle/123456789/592178
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 < 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. ? 2018 The Author(s).
SDGs

[SDGs]SDG3

Other Subjects
antineoplastic agent; Cbl protein; CD135 antigen; cohesin; DNA methyltransferase 3A; isocitrate dehydrogenase 1; isocitrate dehydrogenase 2; Janus kinase 2; K ras protein; protein p53; transcription factor EZH2; transcription factor GATA 2; transcription factor RUNX1; tumor marker; acute myeloid leukemia; adult; Article; ASXL1 gene; cancer chemotherapy; cancer prognosis; cytogenetics; disease free survival; gene; gene mutation; genetic association; hematopoietic stem cell transplantation; high risk patient; human; International Prognostic Scoring System; major clinical study; malignant transformation; myelodysplastic syndrome; oncogene N ras; overall survival; RAD21 gene; SETBP1 gene; SF3B1 gene; SMC1A gene; SMC3 gene; SRSF2 gene; STAG1 gene; STAG2 gene; U2AF1 gene; ZRSR2 gene; adolescent; aged; female; genetic association study; genetic predisposition; genetics; Kaplan Meier method; male; middle aged; mortality; mutation; myelodysplastic syndrome; prognosis; proportional hazards model; very elderly; young adult; Adolescent; Adult; Aged; Aged, 80 and over; Biomarkers, Tumor; Female; Genetic Association Studies; Genetic Predisposition to Disease; Humans; Kaplan-Meier Estimate; Male; Middle Aged; Mutation; Myelodysplastic Syndromes; Prognosis; Proportional Hazards Models; Young Adult
Publisher
Nature Publishing Group
Type
journal article

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