https://scholars.lib.ntu.edu.tw/handle/123456789/537455
標題: | The clinical implication of SRSF2 mutation in patients with myelodysplastic syndrome and its stability during disease evolution | 作者: | SHANG-JU WU Kuo Y.-Y. HSIN-AN HOU Li Y. Tseng M.-H. Huang C.-F. Lee F.-Y. Liu M.-C. Liu C.-W. Lin C.-T. Chen, Chien-Yuan WEN-CHIEN CHOU MING YAO SHANG-YI HUANG BOR-SHENG KO JIH-LUH TANG WOEI TSAY HWEI-FANG TIEN |
公開日期: | 2012 | 卷: | 120 | 期: | 15 | 起(迄)頁: | 3106-3111 | 來源出版物: | Blood | 摘要: | Recurrent somatic mutation of SRSF2, one of the RNA splicing machinery genes, has been identified in a substantial proportion of patients with myelodysplastic syndrome (MDS). However, the clinical and biologic characteristics of MDS with this mutation remain to be addressed. In this study, 34 (14.6%) of the 233 MDS patients were found to have SRSF2 mutation. SRSF2 mutation was closely associated with male sex (P = .001) and older age (P < .001). It occurred concurrently with at least 1 additional mutation in 29 patients (85.3%) and was closely associated with RUNX1, IDH2, and ASXL1 mutations (P = .004, P < .001, and P < .001, respectively). Patients with SRSF2 mutation had an inferior overall survival (P = .010), especially in the lower risk patients. Further exploration showed that the prognostic impact of SRSF2 mutation might be attributed to its close association with old age. Sequential analyses in 173 samples from 66 patients showed that all SRSF2-mutated patients retained their original mutations, whereas none of the SRSF2-wild patients acquired a novel mutation during disease evolution. In conclusion, SRSF2 mutation is associated with distinct clinical and biologic features in MDS patients. It is stable during the clinical course and may play little role in disease progression. ? 2012 by The American Society of Hematology. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-84867801670&doi=10.1182%2fblood-2012-02-412296&partnerID=40&md5=590690200639530d1a952690fecfdb97 https://scholars.lib.ntu.edu.tw/handle/123456789/537455 |
ISSN: | 0006-4971 | DOI: | 10.1182/blood-2012-02-412296 | SDG/關鍵字: | ASXL1 protein; isocitrate dehydrogenase 2; mixed lineage leukemia protein; SRSF2 protein; transcription factor RUNX1; unclassified drug; adult; aged; aging; article; controlled study; disease course; female; gene mutation; genetic association; genetic risk; human; human cell; major clinical study; male; myelodysplastic syndrome; overall survival; priority journal; prognosis; RNA splicing; sequence analysis; somatic mutation |
顯示於: | 醫學系 |
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