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

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.