TERT promoter mutations in soft tissue sarcomas

International Journal of Biological Markers

Volumn 31, Issue 1, 2016, Pages e62-e67

  Campanella, Nathália C ^a   Penna, Valter ^a   Abrahão Machado, Lucas Faria ^a   Cruvinel Carloni, Adriana ^a   Ribeiro, Guilherme ^a   Soares, Paula ^b,c   Scapulatempo Neto, Cristovam ^a   Reis, Rui Manuel ^a,d,e  

^a BARRETOS CANCER HOSPITAL   (Brazil)

^b UNIVERSITY OF PORTO   (Portugal)

^c UNIVERSITY OF PORTO   (Portugal)

^d UNIVERSITY OF MINHO   (Portugal)

^e UNIVERSITY OF MINHO   (Portugal)

Author keywords

Liposarcoma; Mutations; Polymorphism; Soft tissue sarcomas; TERT

Indexed keywords

KI 67 ANTIGEN; MONOCARBOXYLATE TRANSPORTER; TELOMERASE REVERSE TRANSCRIPTASE; TELOMERASE; TERT PROTEIN, HUMAN; TUMOR MARKER;

ADULT; ARTICLE; CONTROLLED STUDY; DEDIFFERENTIATED LIPOSARCOMA; DISEASE COURSE; DNA ISOLATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GEL ELECTROPHORESIS; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; HISTOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LIPOSARCOMA; MAJOR CLINICAL STUDY; MALE; METASTASIS; MIDDLE AGED; MYXOSARCOMA; ONCOGENE; PLEOMORPHIC LIPOSARCOMA; POLYMERASE CHAIN REACTION; PROMOTER REGION; RECURRENT DISEASE; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SOFT TISSUE SARCOMA; TERT GENE; AGED; GENETIC ASSOCIATION STUDY; GENETICS; GENOTYPE; MUTATION; PATHOLOGY; PROGNOSIS; SARCOMA;

ADULT; AGED; BIOMARKERS, TUMOR; FEMALE; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROGNOSIS; PROMOTER REGIONS, GENETIC; SARCOMA; TELOMERASE;

EID: 84959367405     PISSN: 03936155     EISSN: 17246008     Source Type: Journal    
DOI: 10.5301/jbm.5000168     Document Type: Article

References (32)

1. Daniel M, Peek GW, Tollefsbol TO. Regulation of the human catalytic subunit of telomerase (hTERT). Gene. 2012;498(2):135-146.
2. Heidenreich B, Rachakonda PS, Hemminki K, Kumar R. TERT promoter mutations in cancer development. Curr Opin Genet Dev. 2014;24:30-37.
3. Low KC, Tergaonkar V. Telomerase: central regulator of all of the hallmarks of cancer. Trends Biochem Sci. 2013;38(9):426-434.
4. Horn S, Figl A, Rachakonda PS, et al. TERT promoter mutations in familial and sporadic melanoma. Science. 2013;339(6122): 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(6122):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(15):6021-6026.
7. 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(43):17426-17431.
8. Vinagre J, Almeida A, Populo H, et al. Frequency of TERT promoter mutations in human cancers. Nat Commun. 2013;4:2185.
9. Pópulo H, Boaventura P, Vinagre J, et al. TERT promoter mutations in skin cancer: the effects of sun exposure and X-irradiation. J Invest Dermatol. 2014;134(8):2251-2257.
10. Simon M, Hosen I, Gousias K, et al. TERT promoter mutations: a novel independent prognostic factor in primary glioblastomas. Neuro Oncol. 2015;17(1):45-52.
11. Hosen I, Rachakonda PS, Heidenreich B, et al. TERT promoter mutations in clear cell renal cell carcinoma. Int J Cancer. 2015; 136(10):2448-2452.
12. Fletcher CDM, Bridge JA, Hogendoorn P, Mertens F, eds. WHO classification of tumours of soft tissue and bone. 4th ed. Lyon: IARC Press; 2013.
13. Weiss SW, Goldblum JR. Enzinger and Weiss’s soft tissue tumors. 5th ed. Philadelphia: Mosby; 2008.
14. Goldblum JR, Folpe AL, Weiss SW. Enzinger and Weiss’s soft tissue tumors. 6th ed. Philadelphia: Mosby Elsevier; 2013.
15. Cormier JN, Pollock RE. Soft tissue sarcomas. CA Cancer J Clin. 2004;54(2):94-109.
16. Levine EA. Prognostic factors in soft tissue sarcoma. Semin Surg Oncol. 1999;17(1):23-32.
17. Guillou L, Coindre JM, Bonichon F, et al. Comparative study of the National Cancer Institute and French Federation of Cancer Centers Sarcoma Group grading systems in a population of 410 adult patients with soft tissue sarcoma. J Clin Oncol. 1997;15(1):350-362.
18. Yamane LS, Scapulatempo-Neto C, Alvarenga L, et al. KRAS and BRAF mutations and MSI status in precursor lesions of colorectal cancer detected by colonoscopy. Oncol Rep. 2014; 32(4):1419-1426.
19. Campanella NC, Penna V, Ribeiro G, Abrahão-Machado LF, Scapulatempo- Neto C, Reis RM. Absence of microsatellite instability in soft tissue sarcomas. Pathobiology. 2015;82(1):36-42.
20. Campanella NC, Celestino R, Pestana A, et al. Low frequency of TERT promoter mutations in gastrointestinal stromal tumors (GISTs). Eur J Hum Genet. 2015;23(6):877-879.
21. Pinheiro C, Penna V, Morais-Santos F, et al. Characterization of monocarboxylate transporters (MCTs) expression in soft tissue sarcomas: distinct prognostic impact of MCT1 sub-cellular localization. J Transl Med. 2014;12:118.
22. Campos M, De Campos SG, Ribeiro GG, et al. Ki-67 and CD100 immunohistochemical expression is associated with local recurrence and poor prognosis in soft tissue sarcomas, respectively. Oncol Lett. 2013;5(5):1527-1535.
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(2):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(9): 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. Koelsche C, Renner M, Hartmann W, et al. TERT promoter hotspot mutations are recurrent in myxoid liposarcomas but rare in other soft tissue sarcoma entities. J Exp Clin Cancer Res. 2014;33(1):33.
27. Chen C, Han S, Meng L, Li Z, Zhang X, Wu A. TERT promoter mutations lead to high transcriptional activity under hypoxia and temozolomide treatment and predict poor prognosis in gliomas. PLoS ONE. 2014;9(6):e100297.
28. Costa A, Daidone MG, Daprai L, et al. Telomere maintenance mechanisms in liposarcomas: association with histologic subtypes and disease progression. Cancer Res. 2006;66(17):8918-8924.
29. Dunham MA, Neumann AA, Fasching CL, Reddel RR. Telomere maintenance by recombination in human cells. Nat Genet. 2000; 26(4):447-450.
30. Ulaner GA, Huang HY, Otero J, et al. Absence of a telomere maintenance mechanism as a favorable prognostic factor in patients with osteosarcoma. Cancer Res. 2003;63(8):1759-1763.
31. Montgomery E, Argani P, Hicks JL, DeMarzo AM, Meeker AK. Telomere lengths of translocation-associated and nontranslocation- associated sarcomas differ dramatically. Am J Pathol. 2004;164(5):1523-1529.
32. Ruden M, Puri N. Novel anticancer therapeutics targeting telomerase. Cancer Treat Rev. 2013;39(5):444-456.