https://scholars.lib.ntu.edu.tw/handle/123456789/623925
標題: | Effect of mutation allele frequency on the risk stratification of myelodysplastic syndrome patients | 作者: | WAN-HSUAN LEE CHIEN-CHIN LIN CHENG-HONG TSAI Tseng, Mei-Hsuan YUAN-YEH KUO Liu, Ming-Chih JIH-LUH TANG Sun, Hsun-I Chuang, Yi-Kuang WEN-CHIEN CHOU HSIN-AN HOU HWEI-FANG TIEN |
關鍵字: | PROGNOSTIC SCORING SYSTEM; ACUTE MYELOID-LEUKEMIA; HEALTH-ORGANIZATION CLASSIFICATION; TREATED PATIENTS; MOLECULAR-DATA; IMPACT; LANDSCAPE; EVOLUTION; OUTCOMES; MODELS | 公開日期: | 15-九月-2022 | 出版社: | WILEY | 來源出版物: | American journal of hematology | 摘要: | Myelodysplastic syndrome (MDS) is a heterogeneous group of clonal myeloid malignancies. Though several recurrent mutations are closely correlated with clinical outcomes, data concerning the association between mutation variant allele frequencies (VAF) and prognosis are limited. In this study, we performed comprehensive VAF analyses of relevant myeloid-malignancy related mutations in 698 MDS patients and correlated the results with their prognosis. Mutation VAF in DNMT3A, TET2, ASXL1, EZH2, SETBP1, BCOR, SFSF2, ZRSR2, and TP53 mutations correlated with outcomes. In multivariable analysis, DNMT3A and ZRSR2 mutations with high VAF and mutant IDH2, CBL, U2AF1, and TP53 were independent poor prognostic factors for overall survival. A substantial portion of patients in each revised International Prognostic Scoring System (IPSS-R) risk group could be adjusted to different prognostic groups based on the integrated VAF and mutational profiles. Patients with these unfavorable mutations in each IPSS-R risk subgroup had survivals worse than other patients of the same risk but similar to those in the next higher-risk subgroup. Furthermore, patients harboring U2AF1 mutation might benefit from hypomethylating agents. This study demonstrated the critical role of VAF of mutations for risk stratification in MDS patients and may be incorporated in novel scoring systems. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/623925 | ISSN: | 0361-8609 | DOI: | 10.1002/ajh.26734 |
顯示於: | 醫學院附設醫院 (臺大醫院) |
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