Endocrine Abstracts

Background: Patients with type 2 diabetes (T2DM) are generally known to have increased risk of various types of cancer. However, the studies addressing the association between T2DM and thyroid cancer are heterogeneous and inconclusive. The aim of our study was to evaluate the patients who have already undergone thyroid surgery with histologically confirmed results as the ‘gold standard’.Methods: A retrospective study in 102 patients (74 women a...

Objectives: Pathogenic variants in the DICER1 gene can be found in both benign and malignant thyroid nodules, more often in pediatric patients. Somatic pathogenic variants in "hotspot" regions can coexist with germline variants in other regions of the DICER1 gene, which are associated with DICER1 syndrome, an autosomal dominantly inherited disease that predisposes to the development of various tumors from childhood. In addition to thyroid tumors, pleu...

Objectives: Effective patient management is about finding a balance between overtreatment and undertreatment. Finding the border is very difficult due to the hardly predictable development of carcinoma. Molecular markers and their testing could help distinguish between low-grade and high- grade carcinomas. One of these molecular markers is a BRAF fusion gene. The aim of this study was to identify BRAF fusion genes in thyroid carcinomas, to correlate them with...

Objectives: The substitution BRAF p.V600E is the most common genetic cause of the papillary thyroid carcinoma (PTC) and represents more than 95% genetic variants in BRAF gene. Other rare variants in the BRAF gene include other substitutions (e.g. p.K601E), small deletions or insertions close to codon 600. The aim of this study was to analyze a large cohort of thyroid nodules for rare genetic variants in the BRAF gene.M...

Objectives: ALK fusion genes are a rare genetic alteration and have been described in various t types of thyroid carcinomas, particularly in papillary thyroid carcinomas (PTCs), poorly differentiated thyroid carcinomas (PDTCs) and anaplastic thyroid carcinomas (ATCs). The aim of this study was to identify ALK fusion genes in thyroid carcinoma samples, correlate them with clinical and histopathological features, and determine the prognostic significance of <em...

Objectives: Phosphatase and tension homolog (PTEN) is a part of signal pathways which are essential for cell proliferation, cell cycle progression, and apoptosis. Variants in the PTEN gene occur in different types of thyroid tumors with unclear diagnostic and prognostic impact. Most variants are somatic, but they can also be germline, which are associated with PTEN hamartoma tumor syndrome (PHTS). PHTS includes Cowden syndrome, which is characterized by hamartomas, an...

Background: Variants of the TSHR gene occur in different types of thyroid tumors. The importance of their molecular testing and the clinical impact is unclear. The aim of this study was to detect TSHR variants in a large cohort of malignant, low-risk and benign thyroid tumors and correlate them with clinical and histopathological data.Methods: The cohort consisted of 885 fresh frozen thyroid tumor samples (455 malignant tumors, 52 low-r...

Objectives: Molecular testing of thyroid tumors is increasingly being used for the diagnosis and prognosis of patients. In some cases, however, the same gene variant may be present in both benign and malignant thyroid tissue. The issue is also a different nature (aggressiveness) of carcinomas of the same genetic origin. Comparing of DNA methylation profiles of these samples could be a possible way of distinguishing these cases. Aim of this pilot study was to analyze the DNA me...