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...

Objectives: Although, almost all patients with inherited medullary thyroid carcinomas (MTC) harboured RET proto-oncogene mutation, in patients with sporadic MTC, mutations in RET are detected only in half of cases. Thus still unknown genetic causes are responsible for half of sporadic MTC and it is necessary to search for another mutations.Methods: DNAs from fresh frozen thyroid tissues of 27 sporadic MTC were extracted. The next-genera...

Introduction: Thyroid carcinomas are the most often endocrine malignancy and their incidence is still growing. Thus, the finding of genetic predispositions to the thyroid cancer is desired. One of the genetic causes can be risk variants of tumor suppressor genes in patients. Our goal was to determine the influence of polymorphisms Val109Gly (T/G) in gene CDKN1B encoding protein p27/Kip1 and Arg72Pro (C/G) in gene TP53 encoding protein p53 on the development of thyroid cancer. ...

IntroductionThe MTNR1B gene encodes a receptor for melatonin, a hormone that controls biorhythms. The gene is expressed primarily in the brain, but also in human pancreatic cells. Genetic studies suggest that variability in the MTNR1B gene is one of the factors sought to influence the pathophysiology of type 2 diabetes mellitus (T2DM). The single nucleotide polymorphism rs10830963 shows the strongest association. Our aim was to compare ...

Objectives: Fine needle aspiration biopsy (FNAB) together with ultrasonography is a necessary tool for diagnosis and follow up of thyroid nodules. Molecular testing is increasingly used mainly for indeterminate categories of the Bethesda System for Reporting Thyroid Cytopathology revised in 2017. Our aim was to introduce a routine molecular analysis of the main genetic causes of thyroid cancer.Methods: Since 2017 we have analyzed 1171 samples of patients...

Objectives: Molecular testing of fine-needle aspiration biopsy (FNAB) samples is increasingly used mainly for indeterminate categories of the Bethesda System for Reporting Thyroid Cytopathology. Our aim was to introduce a routine molecular analysis of the main genetic causes of thyroid cancer.Methods: In total, 1354 FNAB samples of thyroid nodules were analyzed. Testing procedures mainly in samples evaluated as Bethesda categories III and above were grad...

Background and aims: Neuroactive steroids and their metabolites play an important regulatory role in the nervous system affecting the neuronal plasticity, stress response, learning, and memory. The aim of the study was to compare the steroid metabolome in AD patients and controls.Materials and methods: The study comprised of 48 AD patients (30 women and 18 men; age 73.8±9.54 years) and 33 matched controls (22 women and 11 men; age 68.2±5.94 yea...

Introduction: Differential diagnosis of thyroid nodules is one of the most frequently solved problems in the endocrinological practice. It is always necessary to determine their biological nature, which will decide about further therapeutic procedure, especially about early surgery in case of proven malignancy. In addition to sonographic examination and fine needle aspiration biopsy (FNAB), now we can also use the possibilities of molecular-genetic examination.<p class="ab...

Thyroid cancer in children and adolescents is a rare disease but with an increasing incidence. As in adults, the most prevalent type is papillary thyroid carcinoma (PTC). Our aim was to describe the clinical and genetic comparison between pediatric and adult PTC. We analyzed the cohorts of 73 pediatric PTC (5-18 years, female to male ratio 2.3:1, 10 patients <10 years) and 460 adult PTC patients. DNA and RNA were extracted from cancer tissue samples. DNA was used for seque...

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...