Endocrine Abstracts

Introduction: Medullary thyroid carcinoma (MTC) is a calcitonin-producing tumor that predominantly occurs in a sporadic form (75%) and less commonly in an inherited form. Besides activating germline mutations of the RET proto-oncogene in hereditary syndromes of MEN2, somatic RET mutations are detectable in about 50% of sporadic MTC. Further, also RAS mutations have been discovered in 30% of RET-negative tumor tissues. Other genetic alteratio...

Objective: RET fusion genes are known driver mutation in thyroid cancer and have been described mainly in pediatric thyroid carcinomas, in which they represent the most common genetic alteration. In large cohorts of adult patients, RET fusions have not yet been well characterized. The aims of this study were to identify RET fusion-positive thyroid tumors in a cohort of different types of thyroid carcinomas and to correlate them with clinical and hist...

Objectives: Papillary thyroid carcinoma (PTC) is the most frequent malignant endocrine disease and the most common genetic cause of the PTC is the substitution c.1799T>A (p.V600E) in the BRAF gene (35-70% of PTC) that represents more than 95% of BRAF mutations. Other rare mutations in the BRAF gene include other substitutions (e.g. p.K601E), small deletions or insertions close to codon 600. The aim was to analyze a large cohort of thyroid nodules...

Objectives: The identification of novel causing genes in thyroid carcinoma is very important in diagnosis and prognosis of the disease. Recently, The Cancer Genome Atlas (TCGA) study found EIF1AX, CHEK2 and PPM1D genes as new minor causing genes in the papillary thyroid cancer (PTC) development. The goal of this study was to detect variants in these genes in PTC, follicular thyroid carcinoma (FTC) and anaplastic thyroid carcinoma (ATC) cohorts.<p class="a...

Objectives: RET fusion genes are known driver mutations in papillary thyroid carcinomas (PTCs) and have been described mainly in pediatric PTCs, in which they represent the most common genetic alteration. The aims of this study were to identify RET fusion genes in PTCs (from pediatric as well as adult patients), to correlate them with clinical and histopathological features and to determine the prognostic significance of RET fusion genes based on lon...

Objectives: Variants in the EIF1AX gene have been reported in malignant as well as benign thyroid nodules and their clinical significance is still unclear due to their low prevalence. The aim of this study was to identify EIF1AX variants in a large cohort of different types of thyroid nodules and to correlate them with clinical and pathological data.Methods: The study consisted of 904 thyroid nodule samples. The cohort included 577 papi...