Molecular analysis of TTF-1 and TTF-2 genes in patients with early onset papillary thyroid carcinoma

C. Espadinha, A.L. Silva, R. Cabrera, M.J. Bugalho

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Two common variants, close from TTF-1 and TTF-2, were shown to predispose to thyroid cancer (TC) in European populations. We aimed to investigate whether TTF-1 and TTF-2 variants might contribute to TC early onset (EO). Tumor samples from eighteen patients with papillary TC (PTC), who underwent total thyroidectomy at an age of ≤21, were screened for TTF-1 and TTF-2 variants. No TTF-1 variants were documented; two novel germinal TTF-2 variants, c.200CG (p.A67G) and c.510CA (p.A170A), were identified in two patients. Two already described TTF-2 variants were also documented; the allelic frequency among patients was not different from that observed among controls. Moreover, RET/PTC rearrangements and the BRAFV600E mutation were identified in 5/18 and 2/18 PTCs, respectively. Thyroglobulin (TG) and thyroid peroxidase (TPO) expression was found to be significantly decreased in tumors, and the lowest level of TPO expression occurred in a tumor harboring both the p.A67GTTF-2 variant and a RET/PTC3 rearrangement. Copyright 2012 Carla Espadinha et al.
Original languageEnglish
Pages (from-to)Online
Number of pages6
JournalJournal of Bone Oncology
Publication statusPublished - 2012


  • adenine
  • cytosine
  • guanine
  • thyroglobulin
  • thyroid peroxidase
  • thyroid transcription factor 1
  • thyroid transcription factor 2
  • adolescent
  • adult
  • article
  • cancer surgery
  • child
  • clinical article
  • controlled study
  • female
  • gene expression
  • gene frequency
  • gene mutation
  • genetic analysis
  • genetic association
  • genetic screening
  • genetic variability
  • human
  • human tissue
  • male
  • nucleotide sequence
  • preschool child
  • school child
  • thyroid papillary carcinoma
  • thyroidectomy


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