TERT promoter mutations in soft tissue sarcomas.
Int J Biol Markers
; 31(1): e62-7, 2016 Feb 28.
Article
en En
| MEDLINE
| ID: mdl-26391479
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Pronóstico
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Sarcoma
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Biomarcadores de Tumor
/
Telomerasa
Tipo de estudio:
Prognostic_studies
Límite:
Adult
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Aged
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Female
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Humans
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Male
/
Middle aged
Idioma:
En
Revista:
Int J Biol Markers
Asunto de la revista:
BIOQUIMICA
/
NEOPLASIAS
Año:
2016
Tipo del documento:
Article
Pais de publicación:
Estados Unidos