https://scholars.lib.ntu.edu.tw/handle/123456789/461745
標題: | Targeted next-generation sequencing of cancer genes identified frequent TP53 and ATRX mutations in leiomyosarcoma | 作者: | CHING-YAO YANG JAU-YU LIAU Huang W.-J. YU-TING CHANG MING-CHU CHANG JEN-CHIEH LEE JIA-HUEI TSAI Su Y.-N. Hung C.-C. YUNG-MING JENG |
公開日期: | 2015 | 出版社: | E-Century Publishing Corporation | 卷: | 7 | 期: | 10 | 起(迄)頁: | 2072-2081 | 來源出版物: | American Journal of Translational Research | 摘要: | Leiomyosarcoma is an aggressive soft tissue sarcoma with poor patient survival. The genetic changes of leiomyosarcoma remain to be discovered. In this study, we analyzed the genetic changes of 44 cancer-related genes by using next-generation sequencing in 54 leiomyosarcomas. We identified TP53 mutations in 19 of the 54 tumors (35%) and ATRX mutations in 9 of the 54 tumors (17%). The TP53-mutated leiomyosarcomas were limited to female patients (P = 0.006). All but 2 of the TP53-mutated leiomyosarcomas were located in the uterus (n = 11) or retroperitoneum (n = 6). The ATRX mutations were associated with poorly differentiated leiomyosarcomas (P = 0.028) and the presence of tumor necrosis (P = 0.015). Kaplan-Meier survival analysis showed that patients with ATRX-mutated leiomyosarcomas had worse overall survival than did patients with ATRX-wild-type leiomyosarcomas. All of the ATRX-mutated leiomyosarcomas showed the alternative lengthening of telomere phenotype. The ATRX mutations did not correlate with ATRX protein expression, as detected using immunohistochemistry. In conclusion, we identified loss of function of the p53 and ATRX pathways being the main mechanisms for leiomyosarcomas. The molecular mechanisms may provide new opportunities to treat these aggressive neoplasms. ? 2015, E-Century Publishing Corporation. All rights reserved. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-84947780019&partnerID=40&md5=61f73f537b516455cdff40ee588bc4df https://scholars.lib.ntu.edu.tw/handle/123456789/461745 |
ISSN: | 1943-8141 | SDG/關鍵字: | protein p53; adult; Article; bioinformatics; controlled study; DNA extraction; female; fluorescence in situ hybridization; frameshift mutation; gene mutation; gene sequence; human; human tissue; immunohistochemistry; leiomyosarcoma; loss of function mutation; major clinical study; male; middle aged; next generation sequencing; polymerase chain reaction; prevalence; protein expression; sequence analysis; signal transduction; tumor differentiation; tumor gene; tumor necrosis |
顯示於: | 醫學系 |
在 IR 系統中的文件,除了特別指名其著作權條款之外,均受到著作權保護,並且保留所有的權利。