Identification of a novel variant and its association with papillary thyroid carcinoma.

HRas proto-oncogene () is one of the most commonly mutated genes in thyroid cancer, with mutations frequently occurring in the follicular and Hurthle cell subtypes. However, the contribution of mutations in to papillary thyroid carcinoma (PTC) progression and the tall-cell variant (TCV) is poorly understood. The aim of the present study was to investigate the somatic genetic variants present in in patients with PTC, and to investigate the association of these mutations with PTC. The present study is a retrospective case-control study using tumor samples collected from 139 patients with PTC and blood samples from 195 healthy individuals. All patient samples were screened for mutations in 'hotspot' regions of and B-raf proto-oncogene () by single-stranded conformational polymorphism analysis, followed by direct sequencing. A novel variant (IVS1-82del gctgggcctggg) in the 5'-untranslated region was identified. There was no difference in age or sex of patients with PTC and the healthy controls; however, the variant was more frequently detected in PTC tissue than in the healthy control samples (37 vs. 26%, P=0.04). There was no association between the variant and age, sex, tumor size, encapsulation, multifocality/intra-thyroidal spread, Tumor-Node-Metastasis stage, history of Hashimoto's disease, V600E mutation or PTC subtype (all P>0.05). There were differences of V600E distribution among different subtypes (χ=6.390, P=0.041). variant co-occurring with the V600E mutation accounted for 31.6% of the total number (P=0.196). Therefore, this novel variant of (IVS1-82del gctgggcctggg) may be associated with PTC; however, larger scale studies are required to assess the contribution of this novel variant to PTC progression.