| Full text | |
| Author(s): |
Campanella, Nathalia C.
;
Penna, Valter
;
Abrahao-Machado, Lucas Faria
;
Cruvinel-Carloni, Adriana
;
Ribeiro, Guilherme
;
Soares, Paula
;
Scapulatempo-Neto, Cristovam
;
Reis, Rui M.
Total Authors: 8
|
| Document type: | Journal article |
| Source: | International Journal of Biological Markers; v. 31, n. 1, p. 6-pg., 2016-01-01. |
| Abstract | |
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) | |
| FAPESP's process: | 13/25787-3 - Study of biomarkers of prognosis and response to therapy in gastrointestinal stromal tumors (GISTs) |
| Grantee: | Nathália Cristina Campanella |
| Support Opportunities: | Scholarships in Brazil - Doctorate (Direct) |