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

Author(s):Show less -

Campanella, Nathalia C. ^[1] ; Celestino, Ricardo ^{[2, 3]} ; Pestana, Ana ^{[2, 4]} ; Scapulatempo-Neto, Cristovam ^{[1, 5]} ; de Oliveira, Antonio Talvane ^[6] ; Brito, Maria Jose ^[7] ; Gouveia, Antonio ^[8] ; Lopes, Jose Manuel ^{[2, 9, 10]} ; Guimaraes, Denise Peixoto ^{[1, 11]} ; Soares, Paula ^{[2, 10]} ; Reis, Rui M. ^{[1, 12, 13]}

Affiliation:Show less -

^[1] Barretos Canc Hosp, Mol Oncol Res Ctr, BR-14784400 Barretos, SP - Brazil

^[2] Univ Porto IPATIMUP, Inst Mol Pathol & Immunol, Oporto - Portugal

^[3] Polytech Porto, Sch Allied Hlth Sci ESTSP, Oporto - Portugal

^[4] Univ Porto, Inst Biomed Sci, P-4100 Oporto - Portugal

^[5] Barretos Canc Hosp, Dept Pathol, Sao Paulo - Brazil

^[6] Barretos Canc Hosp, Dept Surg, Sao Paulo - Brazil

^[7] Hosp Garcia Orta, Dept Pathol, Sao Paulo - Brazil

^[8] Hosp Sao Joao, Dept Surg, Oporto - Portugal

^[9] Ctr Hosp Sao Joao, Dept Pathol, Oporto - Portugal

^[10] Univ Porto, Dept Pathol & Oncol, Fac Med, P-4100 Oporto - Portugal

^[11] Barretos Canc Hosp, Dept Endoscopy, Sao Paulo - Brazil

^[12] Univ Minho, Sch Hlth Sci, Life & Hlth Sci Res Inst ICVS, Braga - Portugal

^[13] 3Bs PT Govt Associate Lab, ICVS, Braga - Portugal

• Document type: Journal article
• Source: European Journal of Human Genetics; v. 23, n. 6, p. 877-879, JUN 2015.
• Web of Science Citations: 15

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. (AU)

• FAPESP's process: 13/25787-3 - Study of biomarkers of prognosis and response to therapy in gastrointestinal stromal tumors (GISTs)
• Grantee: Nathália Cristina Campanella
• Support Opportunities: Scholarships in Brazil - Doctorate (Direct)