title: Low frequency of TERT promoter mutations in gastrointestinal stromal tumors (GISTs).
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.
authors.affiliation: Molecular Oncology Research Center, Barretos Cancer Hospital, Sao Paulo, Brazil.
authors.forename: Nathália C
authors.initials: NC
authors.lastname: Campanella
authors.affiliation: 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.
authors.forename: Ricardo
authors.initials: R
authors.lastname: Celestino
authors.affiliation: 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.
authors.forename: Ana
authors.initials: A
authors.lastname: Pestana
authors.affiliation: 1] Molecular Oncology Research Center, Barretos Cancer Hospital, Sao Paulo, Brazil [2] Department of Pathology, Barretos Cancer Hospital, Sao Paulo, Brazil.
authors.forename: Cristovam
authors.initials: C
authors.lastname: Scapulatempo-Neto
authors.affiliation: Department of Surgery, Barretos Cancer Hospital, Sao Paulo, Brazil.
authors.forename: Antonio Talvane
authors.initials: AT
authors.lastname: de Oliveira
authors.affiliation: Department of Pathology, Hospital Garcia de Orta, Almada, Portugal.
authors.forename: Maria José
authors.initials: MJ
authors.lastname: Brito
authors.affiliation: Department of Surgery, Hospital São João, Porto, Portugal.
authors.forename: António
authors.initials: A
authors.lastname: Gouveia
authors.affiliation: 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.
authors.forename: José Manuel
authors.initials: JM
authors.lastname: Lopes
authors.affiliation: 1] Molecular Oncology Research Center, Barretos Cancer Hospital, Sao Paulo, Brazil [2] Department of Endoscopy, Barretos Cancer Hospital, Sao Paulo, Brazil.
authors.forename: Denise Peixoto
authors.initials: DP
authors.lastname: Guimarães
authors.affiliation: 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.
authors.forename: Paula
authors.initials: P
authors.lastname: Soares
authors.affiliation: 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.
authors.forename: Rui M
authors.initials: RM
authors.lastname: Reis
mesh_terms: D005260:Female; D005770:Gastrointestinal Neoplasms / Q000235:genetics*; D046152:Gastrointestinal Stromal Tumors / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D059645:Mutation Rate; D011401:Promoter Regions, Genetic; D019098:Telomerase / Q000235:genetics*
chemical_list: C509186:TERT protein, human; D019098:Telomerase