title: TERT promoter mutations in soft tissue sarcomas.
abstract: BACKGROUND
  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&gt;T and c.-146 C&gt;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.
authors.affiliation: Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, São Paulo - Brazil.
authors.forename: Nathália C
authors.initials: NC
authors.lastname: Campanella
authors.affiliation: Department of Orthopedy, Barretos Cancer Hospital, Barretos, São Paulo - Brazil.
authors.forename: Valter
authors.initials: V
authors.lastname: Penna
authors.affiliation: Department of Pathology, Barretos Cancer Hospital, Barretos, São Paulo - Brazil.
authors.forename: Lucas Faria
authors.initials: LF
authors.lastname: Abrahão-Machado
authors.affiliation: Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, São Paulo - Brazil.
authors.forename: Adriana
authors.initials: A
authors.lastname: Cruvinel-Carloni
authors.affiliation: Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, São Paulo - Brazil.
authors.forename: Guilherme
authors.initials: G
authors.lastname: Ribeiro
authors.affiliation: Institute of Molecular Pathology and Immunology of University of Porto (IPATIMUP), Porto - Portugal.|Instituto de Investigação e Inovação em Saúde, University of Porto, Porto - Portugal.
authors.forename: Paula
authors.initials: P
authors.lastname: Soares
authors.affiliation: Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, São Paulo - Brazil.|Department of Pathology, Barretos Cancer Hospital, Barretos, São Paulo - Brazil.
authors.forename: Cristovam
authors.initials: C
authors.lastname: Scapulatempo-Neto
authors.affiliation: Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, São Paulo - Brazil.|Life and Health Sciences Research Institute (ICVS), Health Sciences School, University of Minho, Braga - Portugal.|ICVS/3B's-PT Government Associate Laboratory, Braga/Guimarães - Portugal.
authors.forename: Rui M
authors.initials: RM
authors.lastname: Reis
mesh_terms: D000328:Adult; D000368:Aged; D014408:Biomarkers, Tumor / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D011379:Prognosis; D011401:Promoter Regions, Genetic; D012509:Sarcoma / Q000235:genetics* / Q000473:pathology; D019098:Telomerase / Q000235:genetics*
chemical_list: D014408:Biomarkers, Tumor; C509186:TERT protein, human; D019098:Telomerase