title: TERT promoter mutations: a genetic signature of benign and malignant thyroid tumours occurring in the context of tinea capitis irradiation.
abstract: OBJECTIVE
  The aim of this study is to evaluate the frequency and molecular characteristics of TERTp mutations in thyroid adenomas and carcinomas occurring in the low-dose radiation exposure tinea capitis setting.
  
  
  METHODS
  Twenty-seven patients with 34 well-differentiated thyroid carcinomas and 28 patients with 29 follicular adenomas diagnosed in a Portuguese tinea capitis cohort were studied. Blood samples were obtained from all the patients. Screening for TERTp mutations was performed by PCR amplification followed by Sanger sequencing. A series of 33 sporadic thyroid adenomas was used as control.
  
  
  RESULTS
  TERTp mutations were detected in six of the 28 patients with adenoma (21.4%) and in four of the 27 patients with carcinoma (14.8%). Three tumours (two carcinomas and one adenoma) had the tandem mutation -124/-125 GG>AA (30.0%), whereas the remaining seven had the -124G > A. The 20.7% frequency of TERTp mutations in adenomas contrasts with the absence of mutations in the adenomas from the control group and from most series on record, whereas the one found in carcinomas (11.8%) is similar to those reported in the literature for sporadic carcinomas.
  
  
  CONCLUSIONS
  TERTp mutations, including the tandem mutation -124/-125 GG>AA not described previously in thyroid tumours, appear to represent a genetic signature for thyroid tumours in patients submitted to low-dose X-ray irradiation. The high frequency of TERTp mutations in the adenomas of our cohort contrasts with their absence in sporadically occurring, as well as in adenomas of the Chernobyl series.
authors.affiliation: IPATIMUP - Institute of Molecular Pathology and Immunology of the University of PortoPorto, Portugal mboaventura@ipatimup.pt.|i3S - Instituto de Investigação e Inovação em SaúdeUniversidade do Porto, Porto, Portugal.
authors.forename: Paula
authors.initials: P
authors.lastname: Boaventura
authors.affiliation: IPATIMUP - Institute of Molecular Pathology and Immunology of the University of PortoPorto, Portugal.|i3S - Instituto de Investigação e Inovação em SaúdeUniversidade do Porto, Porto, Portugal.
authors.forename: Rui
authors.initials: R
authors.lastname: Batista
authors.affiliation: IPATIMUP - Institute of Molecular Pathology and Immunology of the University of PortoPorto, Portugal.|i3S - Instituto de Investigação e Inovação em SaúdeUniversidade do Porto, Porto, Portugal.
authors.forename: Ana
authors.initials: A
authors.lastname: Pestana
authors.affiliation: IPATIMUP - Institute of Molecular Pathology and Immunology of the University of PortoPorto, Portugal.|i3S - Instituto de Investigação e Inovação em SaúdeUniversidade do Porto, Porto, Portugal.
authors.forename: Marta
authors.initials: M
authors.lastname: Reis
authors.affiliation: IPATIMUP - Institute of Molecular Pathology and Immunology of the University of PortoPorto, Portugal.|i3S - Instituto de Investigação e Inovação em SaúdeUniversidade do Porto, Porto, Portugal.
authors.forename: Adélia
authors.initials: A
authors.lastname: Mendes
authors.affiliation: IPATIMUP - Institute of Molecular Pathology and Immunology of the University of PortoPorto, Portugal.|i3S - Instituto de Investigação e Inovação em SaúdeUniversidade do Porto, Porto, Portugal.
authors.forename: Catarina
authors.initials: C
authors.lastname: Eloy
authors.affiliation: IPATIMUP - Institute of Molecular Pathology and Immunology of the University of PortoPorto, Portugal.|i3S - Instituto de Investigação e Inovação em SaúdeUniversidade do Porto, Porto, Portugal.|Faculty of MedicineUniversity of Porto, Porto, Portugal.|Department of PathologyCentro Hospitalar de S. João, Porto, Portugal.
authors.forename: Manuel
authors.initials: M
authors.lastname: Sobrinho-Simões
authors.affiliation: IPATIMUP - Institute of Molecular Pathology and Immunology of the University of PortoPorto, Portugal.|i3S - Instituto de Investigação e Inovação em SaúdeUniversidade do Porto, Porto, Portugal.|Faculty of MedicineUniversity of Porto, Porto, Portugal.
authors.forename: Paula
authors.initials: P
authors.lastname: Soares
mesh_terms: D006801:Humans; D008875:Middle Aged; D009154:Mutation / Q000235:genetics / Q000528:radiation effects; D011401:Promoter Regions, Genetic / Q000235:genetics* / Q000528:radiation effects; D019098:Telomerase / Q000235:genetics*; D013964:Thyroid Neoplasms / Q000235:genetics*; D014006:Tinea Capitis / Q000532:radiotherapy; D014965:X-Rays / Q000009:adverse effects
chemical_list: D019098:Telomerase