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TitleTERT promoter mutations in soft tissue sarcomas
Author(s)Campanella, Nathália C.
Penna, Valter
Abrahão-Machado, Lucas Faria
Cruvinel-Carloni, Adriana
Ribeiro, Guilherme
Soares, Paula
Scapulatempo-Neto, Cristovam
Reis, R. M.
Soft tissue sarcomas
Issue date2016
Journalinternational Journal of Biological Markers
Abstract(s)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.
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Appears in Collections:ICVS - Artigos em Revistas Internacionais com Referee

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