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

European Journal of Human Genetics

Volumn 23, Issue 6, 2015, Pages 877-879

  Campanella, Nathália C ^a   Celestino, Ricardo ^b,c   Pestana, Ana ^b   Scapulatempo Neto, Cristovam ^a   De Oliveira, Antonio Talvane ^a   Brito, Maria José ^d   Gouveia, António ^e   Lopes, José Manuel ^b,f,g   Guimarães, Denise Peixoto ^a   Soares, Paula ^b,g   Reis, Rui M ^a,h,i  

^a BARRETOS CANCER HOSPITAL   (Brazil)

^b UNIVERSITY OF PORTO   (Portugal)

^c POLYTECHNIC INSTITUTE OF PORTO   (Portugal)

^d HOSPITAL GARCIA DE ORTA   (Portugal)

^e HOSPITAL DE SÃO JOÃO   (Portugal)

^f Centro Hospitalar Universitário de São João   (Portugal)

^g University of Porto   (Portugal)

^h UNIVERSITY OF MINHO   (Portugal)

ⁱ UNIVERSITY OF MINHO   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; TELOMERASE REVERSE TRANSCRIPTASE; TELOMERASE; TERT PROTEIN, HUMAN;

ADULT; ARTICLE; CANCER PATIENT; CANCER RISK; CANCER SURVIVAL; DISEASE ASSOCIATION; FEMALE; GASTROINTESTINAL STROMAL TUMOR; GENE FREQUENCY; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; OVERALL SURVIVAL; PRIORITY JOURNAL; PROMOTER REGION; RETROSPECTIVE STUDY; SOMATIC MUTATION; TUMOR LOCALIZATION; TUMOR VOLUME; GASTROINTESTINAL TUMOR; GENETICS; MUTATION; MUTATION RATE;

FEMALE; GASTROINTESTINAL NEOPLASMS; GASTROINTESTINAL STROMAL TUMORS; HUMANS; MALE; MIDDLE AGED; MUTATION; MUTATION RATE; PROMOTER REGIONS, GENETIC; TELOMERASE;

EID: 84929291747     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.195     Document Type: Article

References (32)

1. Daniel M, Peek GW, Tollefsbol TO: Regulation of the human catalytic subunit of telomerase (hTERT). Gene 2012; 498: 135-146.
2. Heidenreich B, Rachakonda PS, Hemminki K, Kumar R: TERT promoter mutations in cancer development. Curr Opin Genet Dev 2013; 24C: 30-37.
3. Hanahan D, Weinberg RA: Hallmarks of cancer: the next generation. Cell 2011; 144: 646-674.
4. Horn S, Figl A, Rachakonda PS et al: TERT promoter mutations in familial and sporadic melanoma. Science 2013; 339: 959-961.
5. Huang FW, Hodis E, Xu MJ, Kryukov GV, Chin L, Garraway LA: Highly recurrent TERT promoter mutations in human melanoma. Science 2013; 339: 957-959.
6. Killela PJ, Reitman ZJ, Jiao Y et al: TERT promoter mutations occur frequently in gliomas and a subset of tumors derived from cells with low rates of self-renewal. Proc Natl Acad Sci USA 2013; 110: 6021-6026.
7. Vinagre J, Almeida A, Populo H et al: Frequency of TERT promoter mutations in human cancers. Nat Commun 2013; 4: 2185.
8. Rachakonda PS, Hosen I, de Verdier PJ et al: TERT promoter mutations in bladder cancer affect patient survival and disease recurrence through modification by a common polymorphism. Proc Natl Acad Sci USA 2013; 110: 17426-17431.
9. Pópulo H, Boaventura P, Vinagre J et al. TERT promoter mutations in skin cancer: the effects of sun exposure and irradiation. J Investig Dermatol 2014; 134: 2251-2257.
10. Campanella NC, de Oliveira AT, Scapulatempo-Neto C, Guimaraes DP, Reis RM: Biomarkers and novel therapeutic targets in gastrointestinal stromal tumors (GISTs). Recent Pat Anticancer Drug Discov 2013; 8: 288-297.
11. Joensuu H, Hohenberger P, Corless CL: Gastrointestinal stromal tumour. Lancet 2013; 382: 973-983.
12. Martinho O, Gouveia A, Viana-Pereira M et al: Low frequency of MAP kinase pathway alterations in KIT and PDGFRA wild-type GISTs. Histopathology 2009; 55: 53-62.
13. Agaimy A, Terracciano LM, Dirnhofer S et al: V600E BRAF mutations are alternative early molecular events in a subset of KIT/PDGFRA wild-type gastrointestinal stromal tumours. J Clin Pathol 2009; 62: 613-616.
14. Agaram NP, Wong GC, Guo T et al: Novel V600E BRAF mutations in imatinib-naive and imatinib-resistant gastrointestinal stromal tumors. Genes Chromosomes Cancer 2008; 47: 853-859.
15. Celestino R, Lima J, Faustino A et al: A novel germline SDHB mutation in a gastrointestinal stromal tumor patient without bona fide features of the Carney-Stratakis dyad. Fam Cancer 2012; 11: 189-194.
16. Celestino R, Lima J, Faustino A et al: Molecular alterations and expression of succinate dehydrogenase complex in wild-type KIT/PDGFRA/BRAF gastrointestinal stromal tumors. Eur J Hum Genet 2013; 21: 503-510.
17. Sabah M, Cummins R, Leader M, Kay E: Expression of human telomerase reverse transcriptase in gastrointestinal stromal tumors occurs preferentially in malignant neoplasms. Hum Pathol 2004; 35: 1231-1235.
18. de Oliveira AT, Reis RM, Afonso J et al: Lymphangiogenic VEGF-C and VEGFR-3 expression in genetically characterised gastrointestinal stromal tumours. Histol Histopathol 2011; 26: 1499-1507.
19. de Oliveira AT, Pinheiro C, Longatto-Filho A et al: Co-expression of monocarboxylate transporter 1 (MCT1) and its chaperone (CD147) is associated with low survival in patients with gastrointestinal stromal tumors (GISTs). J Bioenerg Biomembr 2012; 44: 171-178.
20. Gomes AL, Gouveia A, Capelinha AF et al: Molecular alterations of KIT and PDGFRA in GISTs: evaluation of a Portuguese series. J Clin Pathol 2008; 61: 203-208.
21. Bosman FT CF, Hruban RH, Theise ND: WHO Classification of Tumours of the Digestive System. Lyon: IARC, Vol 3, 2010.
22. Miettinen M, Lasota J: Gastrointestinal stromal tumors: pathology and prognosis at different sites. Semin Diagn Pathol 2006; 23: 70-83.
23. Griewank KG, Murali R, Schilling B et al: TERT promoter mutations in ocular melanoma distinguish between conjunctival and uveal tumours. Br J Cancer 2013; 109: 497-501.
24. Landa I, Ganly I, Chan TA et al: Frequent somatic TERT promoter mutations in thyroid cancer: higher prevalence in advanced forms of the disease. J Clin Endocrinol Metab 2013; 98: E1562-E1566.
25. Nault JC, Mallet M, Pilati C et al: High frequency of telomerase reverse-transcriptase promoter somatic mutations in hepatocellular carcinoma and preneoplastic lesions. Nat Commun 2013; 4: 2218.
26. Cosmic Database Home. (http://cancer.sanger.ac.uk/cancergenome/projects/cosmic/).
27. Abecasis GR, Auton A, Brooks LD et al: An integrated map of genetic variation from 1,092 human genomes. Nature 2012; 491: 56-65.
28. Corless CL, Barnett CM, Heinrich MC: Gastrointestinal stromal tumours: origin and molecular oncology. Nat Rev Cancer 2011; 11: 865-878.
29. Sakurai S, Fukayama M, Kaizaki Y et al: Telomerase activity in gastrointestinal stromal tumors. Cancer 1998; 83: 2060-2066.
30. Kawai J, Kodera Y, Fujiwara M et al: Telomerase activity as prognostic factor in gastrointestinal stromal tumors of the stomach. Hepatogastroenterology 2005; 52: 959-964.
31. Wang Q, Kou YW: Study of the expressions of p53 and bcl-2 genes, the telomerase activity and apoptosis in GIST patients. World J Gastroenterol 2007; 13: 2626-2628.
32. Melo M, Rocha AG, Vinagre Jet al: TERT promoter mutations are a major indicator of poor outcome in differentiated thyroid carcinomas. J Clin Endocrinol Metab 2014; 99: E754-E765.