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, 8, 1]}

Afiliação do(s) autor(es)

^[1] Barretos Canc Hosp, Mol Oncol Res Ctr, Rua Antenor Duarte Villela 1331, BR-14784400 Barretos, SP - Brazil

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

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

^[4] Univ Porto IPATIMUP, Inst Mol Pathol & Immunol, Oporto - Portugal

^[5] Univ Porto, Fac Med, Dept Pathol & Oncol, Oporto - Portugal

^[6] Univ Porto, Inst Invest & Inovacao Saude, Oporto - Portugal

^[7] Univ Minho, Sch Hlth Sci, Life & Hlth Sci Res Inst ICVS, Braga - Portugal

^[8] ICVS 3Bs PT Govt Associate Lab, Braga - Portugal

• Tipo de documento: Artigo Científico
• Fonte: International Journal of Biological Markers; v. 31, n. 1, p. E62-E67, JAN-MAR 2016.
• Citações Web of Science: 5

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 TERT promoter 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 TERT mutations 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
• Linha de fomento: Bolsas no Brasil - Doutorado Direto