Telomerase reverse transcriptase promoter mutations in cancers derived from multiple organ sites among middle eastern population.
Cancer
Mutation
Promoter
TERT
Journal
Genomics
ISSN: 1089-8646
Titre abrégé: Genomics
Pays: United States
ID NLM: 8800135
Informations de publication
Date de publication:
03 2020
03 2020
Historique:
received:
03
07
2019
revised:
17
09
2019
accepted:
29
09
2019
pubmed:
2
11
2019
medline:
13
1
2021
entrez:
1
11
2019
Statut:
ppublish
Résumé
Sanger Sequencing and immunohistochemistry was employed to investigate the TERT promoter mutations and TERT protein expression with their association to clinicopathological characteristics in over 2200 samples of Middle Eastern origin from 13 different types of cancers. The TERT promoter mutations were most frequently present in bladder cancer (68.6%), followed by central nervous system tumors (28.7%), thyroid cancer (15.4%), prostate cancer (9.3%), endometrial carcinoma (3.7%), rhabdomyosarcoma (1.4%), colorectal cancer (1%), epithelial ovarian carcinoma (0.7%) and breast cancer (0.7%). No mutations were observed in other types of cancers. In bladder cancer, we found significant inverse association with metastasis and a trend to good survival in patients with TERT mutations. In gliomas, TERT promoter mutations predicted poor prognosis. In thyroid cancer, high frequency of TERT mutation was observed in poorly differentiated carcinoma. In addition, TERT promoter mutations were associated with aggressive markers and poor outcome in follicular thyroid carcinomas.
Identifiants
pubmed: 31669704
pii: S0888-7543(19)30404-5
doi: 10.1016/j.ygeno.2019.09.017
pii:
doi:
Substances chimiques
Biomarkers, Tumor
0
TERT protein, human
EC 2.7.7.49
Telomerase
EC 2.7.7.49
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1746-1753Informations de copyright
Copyright © 2019 The Authors. Published by Elsevier Inc. All rights reserved.