Molecular Analysis of TTF-1 and TTF-2 Genes in Patients with Early Onset Papillary Thyroid Carcinoma. (11th March 2012)

• Record Type: Journal Article
• Authors: Espadinha, Carla; Silva, Ana Luísa; Cabrera, Rafael; Bugalho, Maria João
• Other Names: Mulshine James L. Academic Editor.
• Is Part Of: Journal of oncology. Volume 2012(2012)
• Publication Date: 2012-03-11
• Subjects: Oncology -- Research -- Periodicals; Tumors -- Periodicals; Neoplasms; Oncology -- Research; Tumors; Periodicals; Periodicals; 616.994
• DOI: 10.1155/2012/359246
• Languages: English
• ISSNs: 1687-8450

Abstract

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.200C>G (p.A67G) and c.510C>A (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 BRAF V600E 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.A67G TTF-2 variant and a RET/PTC3 rearrangement.