TERT Promoter Mutations in Soft Tissue Sarcomas

Autor(es)

Campanella, Nathalia C. ^[1] ; Penna, Valter ^[2] ; Abrahao-Machado, Lucas Faria ^[3] ; Cruvinel-Carloni, Adriana ^[1] ; Ribeiro, Guilherme ^[1] ; Soares, Paula ^{[4, 5, 6]} ; Scapulatempo-Neto, Cristovam ^{[3, 1]} ; Reis, Rui M. ^{[7, 1, 8]}

Afiliação do(s) autor(es)

^[1] Barretos Canc Hosp, Mol Oncol Res Ctr, Sao Paulo - Brazil

^[2] Barretos Canc Hosp, Dept Orthopedy, Sao Paulo - Brazil

^[3] Barretos Canc Hosp, Dept Pathol, Sao Paulo - Brazil

^[4] Univ Porto, Inst Invest & Inovacao Saude, Porto - Portugal

^[5] Univ Porto IPATIMUP, Inst Mol Pathol & Immunol, Porto - Portugal

^[6] Univ Porto, Dept Pathol & Oncol, Med Fac, Porto - Portugal

^[7] ICVS 3Bs PT Govt Associate Lab, Braga - Portugal

^[8] Univ Minho, Hlth Sci Sch, Life & Hlth Sci Res Inst ICVS, Braga - Portugal

• Tipo de documento: Artigo Científico
• Fonte: International Journal of Biological Markers; v. 31, n. 1, p. 62-67, 2016.
• Citações Web of Science: 0

Resumo

Introduction Oncogenic hotspot mutations in the promoter region of the TERT gene have been identified in several cancer types as being associated with a worse outcome. Additionally, a polymorphism (rs2853669) in the TERTpromoter region was reported to modify the survival of TERT-mutated patients. Our aim is to determine the frequency of c.-124 C>T and c.-146 C>T TERT mutations and to genotype the rs2853669 polymorphism in a series of 68 soft tissue sarcomas (STS) comprising 22 histological subtypes. Methods PCR was performed, followed by direct sequencing of a fragment of TERT containing the hotspots and the rs2853669. Results We found TERTmutations in 4/68 (5.9%) STSs including 1 pleomorphic liposarcoma (1/1), 1 dedifferentiated liposarcoma (1/1) and 2 myxoid liposarcomas (2/9). The variant C allele of rs2853669 was found in 54.8% (34/62) of all STSs and in 75% (3/4) of TERT-mutated cases. TERT mutations were associated with younger age, and the C allele of the rs2853669 was associated with high histological grade (2 and 3). No association was found between TERT mutation status or rs2853669 genotype and patient prognosis. Conclusions We showed that TERT promoter mutation is not a recurrent event in STS and is present in particular histological subtypes. (AU)

• Processo FAPESP: 13/25787-3 - Estudo de biomarcadores de prognóstico e resposta terapêutica em tumores estromais gastrointestinais (GISTs)
• Beneficiário: Nathália Cristina Campanella
• Modalidade de apoio: Bolsas no Brasil - Doutorado Direto