Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.22/5391
Título: Low frequency of TERT promoter mutations in gastrointestinal stromal tumors (GISTs)
Autor: Campanella, Natália C
Celestino, Ricardo
Pestana, Ana
Scapulatempo-Neto, C
Oliveira, Antonio Talvane de
Brito, Maria josé
Gouveia, António
Lopes, José Manuel
Guimarães, Denise Peixoto
Soares, Paula
Reis, Rui Manuel
Data: 24-Set-2014
Editora: Gert-Jan van Ommen
Resumo: Somatic mutations in the promoter region of telomerase reverse transcriptase (TERT) gene, mainly at positions c.-124 and c.-146 bp, are frequent in several human cancers; yet its presence in gastrointestinal stromal tumor (GIST) has not been reported to date. Herein, we searched for the presence and clinicopathological association of TERT promoter mutations in genomic DNA from 130 bona fide GISTs. We found TERT promoter mutations in 3.8% (5/130) of GISTs. The c.-124C>T mutation was the most common event, present in 2.3% (3/130), and the c.-146C>T mutation in 1.5% (2/130) of GISTs. No significant association was observed between TERT promoter mutation and patient's clinicopathological features. The present study establishes the low frequency (4%) of TERT promoter mutations in GISTs. Further studies are required to confirm our findings and to elucidate the hypothetical biological and clinical impact of TERT promoter mutation in GIST pathogenesis.
Peer review: yes
URI: http://hdl.handle.net/10400.22/5391
DOI: 10.1038/ejhg.2014.195
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