https://scholars.lib.ntu.edu.tw/handle/123456789/537473
標題: | Distinct clinical and biological features of de novo acute myeloid leukemia with additional sex comb-like 1 (ASXL1) mutations | 作者: | WEN-CHIEN CHOU HUAI-HSUAN HUANG HSIN-AN HOU Chen, Chien-Yuan JIH-LUH TANG MING YAO WOEI TSAY BOR-SHENG KO SHANG-JU WU SHANG-YI HUANG SZU-CHUN HSU YAO-CHANG CHEN Huang Y.-N. Chang Y.-C. Lee F.-Y. Liu M.-C. Liu C.-W. Tseng M.-H. Huang C.-F. HWEI-FANG TIEN |
公開日期: | 2010 | 卷: | 116 | 期: | 20 | 起(迄)頁: | 4086-4094 | 來源出版物: | Blood | 摘要: | Mutations in the additional sex comb-like 1 (ASXL1) gene were recently shown in various myeloid malignancies, but they have not been comprehensively investigated in acute myeloid leukemia (AML). In this study, we analyzed ASXL1 mutations in exon 12 in 501 adults with de novo AML. ASXL1 mutations were detected in 54 patients (10.8%), 8.9% among those with normal karyotype and 12.9% among those with abnormal cytogenetics. The mutation was closely associated with older age, male sex, isolated trisomy 8, RUNX1 mutation, and expression of human leukocyte antigen-DR and CD34, but inversely associated with t(15;17), complex cytogenetics, FLT3-internal tandem duplication, NPM1 mutations, WT1 mutations, and expression of CD33 and CD15. Patients with ASXL1 mutations had a shorter overall survival than patients without, but the mutation was not an independent adverse prognostic factor in multivariate analysis. Sequential analyses showed that the original ASXL1 mutations were lost at relapse and/or refractory status in 2 of the 6 relapsed ASXL1-mutated patients studied, whereas 2 of the 109 ASXL1-wild patients acquired a novel ASXL1 mutation at relapse. In conclusion, AML bearing ASXL1 mutations showed distinct clinical and biological features. The ASXL1 mutation status can change during disease evolution in a few patients. ? 2010 by The American Society of Hematology. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-78549279199&doi=10.1182%2fblood-2010-05-283291&partnerID=40&md5=dafd313aec9c3c176ad35226f4d5d874 https://scholars.lib.ntu.edu.tw/handle/123456789/537473 |
ISSN: | 0006-4971 | DOI: | 10.1182/blood-2010-05-283291 | SDG/關鍵字: | CD15 antigen; CD33 antigen; CD34 antigen; Flt3 ligand; HLA DR antigen; nucleophosmin; transcription factor RUNX1; WT1 protein; acute granulocytic leukemia; additional sex comb like 1 gene; adult; aged; antigen expression; article; biological trait; clinical feature; cytogenetics; disease course; exon; female; gene; gene mutation; human; karyotype; major clinical study; male; multivariate analysis; overall survival; priority journal; sequence analysis; trisomy 8 |
顯示於: | 醫學系 |
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