Endocrine Abstracts

We report a family with a novel heterozygous mutation of the menin gene. This gene encodes a tumor suppressor protein which is responsible for multiple endocrine neoplasia type 1. The index female patient presented with symptoms of mild gastric hyperacidity and recurrent kidney stones. Family history revealed, that the daughter, as well as two sisters of the index patient had operations for primary hyperparathyroidism (PHPT). Clinical studies in the index patient showed elevat...

Background: The ’three-genes’ (SFN, MRC2, HMGA2) might have direct role in various cancer progression and malignant thyroid conditions. We previously reported an increased expression of 1,25-D3 neutralizing enzyme, (24-hydroxylase – CYP24A1) as a possible novel marker gene in thyroid carcinoma. In this study, we examined the transcription activity of CYP24A1 and ‘three-genes’ in four functional subgroups of papillary thyroid tumor (PTC)....

Introduction: The pathogenesis of sporadic adrenocortical tumors is poorly elucidated. Considering the importance of the adrenal cortex at the immune-neuroendocrine interface and the known actions of immune mediators on adrenocortical cell functioning, we supposed that immune or inflammatory factors might be involved in the pathogenesis of these tumors. Gene expression patterns of various inflammatory and immune mediators were studied by a functional genomics/bioinformatics ap...

Introduction: Adrenocortical carcinoma (ACC) is a rare disease with a poor prognosis. In recent years, two prognostic scoring systems incorporating relevant clinicopathological features of ACC (ENSAT stage, grade, resection status, age at diagnosis, tumour symptoms) have been proposed: the GRAS and S-GRAS scoring systems. The prognostic value of these systems has been demonstrated in large, multicentre studies.Aim: To su mmarize the clinicopathological f...

Cold nodules are one of the most common findings on scintiscans and ultrasound examinations of the thyroid gland. About 5-10% of these nodules turn out to be histologically malignant. Our aim was to examine the predictive value of somatogenetic alterations associated with thyroid cancer in FNA samples of thyroid cold nodules being citologically benign at the beginning of the study. These alterations included single nucleotide mutations (BRAF, HRAS, NRAS, KRAS) and genetic tran...

Thyroid cancer is the most common malignancy of endocrine organs and its incidence is steadily growing worldwide. Approximately 80% of differentiated thyroid tumors are papillary carcinomas. Next-generation sequencing (NGS) allows for high-throughput sequencing analysis of large number of samples at a time in a cost effective manner. We have developed a targeted sequencing parallel testing panel for multiple mutations in genes involved in thyroid cancer pathology. A custom-mad...

Background and aim: Primary hyperparathyroidism (PHPT) is a frequent endocrinopathy among postmenopausal women, leading to hypercalcaemia, osteoporosis and nephrolithiasis. PHPT may represent the first manifestation of certain familial syndromes. Among these, multiple endocrine neoplasia syndrome type 1 (MEN-1) caused by germline mutation of MEN1, the gene encoding menin, is the most frequent. Additionally, somatic mutations of MEN1 and microRNAs silencing <e...

Cold nodules are one of the most common findings on scintigraphic examinations of the thyroid gland. About 5–10% of these nodules turn out to be histologically malignant. Our aim was to examine some somatogenetic alterations associated with thyroid cancer in FNA samples of the thyroid. These alterations included single nucleotide mutations (BRAF, HRAS, NRAS, KRAS) and genetic translocations (RET/PTC1, RET/PTC3, PAX8ex7/PPARgamma, PAX8ex9/PPARgamma). The SNPs were tested b...

Background: It is well established that 1,25-dihydroxyvitamin D3 (1,25-D3) inhibits cell growth and induces apoptosis in numerous tumors. Increased expression of 1,25-D3 inactivating enzyme, (24-hydroxylase - CYP24A1), has been observed in numerous thyroid cancer cell lines after calcitriol treatment in vitro. We examined the expression of CYP24A1 as well as the activating 1-α-hydroxylase (CYP27B1) gene in human thyroid cancer tissue.Methods:...

It is established that somatic oncogene mutation (BRAF, NRAS, HRAS, KRAS) and gene translocations (RET/PTC, PAX8/PPAR-gamma) are associated with the development of thyroid cancer. Somatic single nucleotide polymorphisms were analyzed by LigthCycler melting method, while translocations were identified by real-time polymerase chain reaction technique. In 22 intraoperative thyroid tissue samples (11 pathologic and 11 normal). In tumorous sample 3 BRAF, 2 NRAS and one HRAS mutatio...