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Eur J Hum Genet. 2015 Jun;23(6):877-9. doi: 10.1038/ejhg.2014.195. Epub 2014 Sep 24.

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

Author information

1
Molecular Oncology Research Center, Barretos Cancer Hospital, Sao Paulo, Brazil.
2
1] Institute of Molecular Pathology and Immunology of University of Porto (IPATIMUP), Porto, Portugal [2] School of Allied Health Sciences ESTSP, Polytechnic of Porto, Porto, Portugal.
3
1] Institute of Molecular Pathology and Immunology of University of Porto (IPATIMUP), Porto, Portugal [2] Institute of Biomedical Sciences of University of Porto, Porto, Portugal.
4
1] Molecular Oncology Research Center, Barretos Cancer Hospital, Sao Paulo, Brazil [2] Department of Pathology, Barretos Cancer Hospital, Sao Paulo, Brazil.
5
Department of Surgery, Barretos Cancer Hospital, Sao Paulo, Brazil.
6
Department of Pathology, Hospital Garcia de Orta, Almada, Portugal.
7
Department of Surgery, Hospital São João, Porto, Portugal.
8
1] Institute of Molecular Pathology and Immunology of University of Porto (IPATIMUP), Porto, Portugal [2] Department of Pathology, Centro Hospitalar de São João, Porto, Portugal [3] Department of Pathology and Oncology, Medical Faculty, University of Porto, Porto, Portugal.
9
1] Molecular Oncology Research Center, Barretos Cancer Hospital, Sao Paulo, Brazil [2] Department of Endoscopy, Barretos Cancer Hospital, Sao Paulo, Brazil.
10
1] Institute of Molecular Pathology and Immunology of University of Porto (IPATIMUP), Porto, Portugal [2] Department of Pathology and Oncology, Medical Faculty, University of Porto, Porto, Portugal.
11
1] Molecular Oncology Research Center, Barretos Cancer Hospital, Sao Paulo, Brazil [2] Life and Health Sciences Research Institute (ICVS), Health Sciences School, University of Minho, Braga, Portugal [3] ICVS/3B's-PT Government Associate Laboratory, Braga/Guimarães, Portugal.

Abstract

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.

PMID:
25248398
PMCID:
PMC4795049
DOI:
10.1038/ejhg.2014.195
[Indexed for MEDLINE]
Free PMC Article

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