Abstract
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 language | English |
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Pages (from-to) | Online |
Number of pages | 6 |
Journal | Journal of Bone Oncology |
Volume | 2012 |
DOIs | |
Publication status | Published - 2012 |
Keywords
- 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