Molecular Analysis ofTTF-1andTTF-2Genes in Patients with Early Onset Papillary Thyroid Carcinoma

[摘要] Two common variants, close fromTTF-1andTTF-2, were shown to predispose to thyroid cancer (TC) in European populations. We aimed to investigate whetherTTF-1andTTF-2variants 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 forTTF-1andTTF-2variants. NoTTF-1variants were documented; two novel germinalTTF-2variants, c.200C>G (p.A67G) and c.510C>A (p.A170A), were identified in two patients. Two already describedTTF-2variants were also documented; the allelic frequency among patients was not different from that observed among controls. Moreover,RET/PTCrearrangements and theBRAFV600E 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-2variant and aRET/PTC3rearrangement.

[学科分类] 肿瘤学