Low frequency of TERT promoter mutations in gastrointestinal stromal tumors (GISTs).

• Author(s): Reis, R. M. ; Campanella, Nathália C. ; Celestino, Ricardo ; Pestana, Ana ; Scapulatempo-Neto, Cristovam ; Oliveira, Antônio Talvane Torres ; Brito, Maria José ; Gouveia, António ; Lopes, José M. ; Guimarães, Denise Peixoto ; Soares, Ana Paula
• Date: 2015
• Persistent ID: https://hdl.handle.net/1822/40299
• Origin: RepositóriUM - Universidade do Minho
• Document Type: Journal article
• Language: English
• Contributor(s): Universidade do Minho

Description

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. − 124C4T mutation was the most common event, present in 2.3% (3/130), and the c. − 146C4T 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.