Endocrine Abstracts

Proto-oncogene RET encodes a receptor tyrosine kinase. Germline point mutations of RET result in development of multiple endocrine neoplasia, type 2 (MEN 2). MEN 2 phenotype is correlated with intragene localization of germline mutation. The disease has three main subtypes, MEN 2A, MEN 2B and FMTC. Each of subtypes is associated with high risk of medullary thyroid cancer, MEN 2A and MEN 2B with 50% risk of pheochromocytoma, MEN 2A with 15–30% risk of primary hyperparathyr...

Background: Although neuroendocrine tumours (NET) constitute a very heterogeneous group, most of them express somatostatin receptors that enable treatment with somatostatin analogues(SA), which proved to be effective both as bio- or radiopeptide therapy. However, little is now about combining this two treatment modalities.The aim of our prospective study was to evaluate results of radiolabeled somatostatin analogues (PRRT) with or without long lasting ‘cold’ SA as co...

Introduction: Mechanism of pathogenesis of pituitary adenomas is still unknown. Gene expression differences in pituitary cells of different origin are not extensively described. Identification of genes specific for pituitary adenomas should enable better understanding of differences in their response to therapy, especially to radiotherapy.Aim: The aim of our study was to evaluate the correlation of coexpression of distinct pituitary adenoma genes based o...

Background: Graves’ disease (GD) is a complex disease in which genetic predisposition is modified by environmental factors. The pathogenesis of GD and Graves’ orbitopathy (GO) might have a different genetic background – in some patients GO is observed before or late after diagnosis of GD hyperthyroidism. The aim of the study was to assess genetic predisposition to GD and GO in young patients (age of diagnosis ≤30 years of age), in which the time of environ...

Background: Multiple endocrine neoplasia syndrome type 2 (MEN2) is a rare disease characterised by inherence in each patient medullary thyroid carcinoma (MTC), pheochromocytoma and in type MEN 2a primary hyperparathyroidism, in type MEN2b marfanoid habitus and neurofibromas. Mutation in RET proto-oncogene at chromosome 10 is a molecular cause of MEN2 syndrome.Methods: Eighteeen patients with MEN2 syndrome were enrolled: (10 women and 8 men) mean age 22&#...

Although neuroendocrine tumours (NET) constitute a very heterogeneous group, they express somatostatin receptors in more than 80% of cases that allows for their effective diagnosis and treatment with somatostatin analogues. Introduction in the recent years of new somatostatin analogues and chelators feasible for labelling with radiometals allowed for development of new therapeutic strategy – radiopeptide therapy. The aim of the work is to present experience with 90</...

Tumors derived from chromaffine tissue include pheochromocytomas (tumors located in adrenal medulla) and paragangliomas (extraadrenal tumors). These tumors are in 20–25% inherited. Paragangliomas are even rarer and are presented either as familial disease or pheochromocytoma-paraganglioma syndrome (PPS). The mutations in SDH genes (SDHB, SDHD) are suspected for causing the syndrome.The aim of present study is to look for germline mutat...

We performed the analysis of correlation between gene expression profile of the papillary thyroid cancer PTC tumors and known clinical factors influencing the outcome of the disease. Gene expression profile was assessed on Human Genome U133A array (Affymetrix). We examined tumors samples obtained from 49 patients diagnosed with PTC. For further evaluation we included following factors: sex, age, tumor size, capsule invasion, multifocality, vascular invasion, lymph node and dis...

Calcitonin and carcinoembryonal antigen are biochemical markers of medullary thyroid carcinoma (MTC). Assessment of the dynamics of their serum concentration allow for calculation of their doubling times that are independent risk factors for overall survival and progression-free survival in MTC. It is generally accepted that the dynamics and the doubling times remain stable during follow-up.Aim: The aim of the study was to retrospectively verify the stab...

A global TC risk in a single thyroid nodule is rather small and ranges between 1 and 11%. However, taking into consideration Bethesda System for Reporting Thyroid Cytopathology TC risk varies between distinct categories: 0–3, 5–15, 15–30, 60–75 and 97–99% for Bethesda class II–VI, respectively. However, these values may differ in a centre, specialized in TC. Therefore, the aim of this study was to evaluate the TC risk in patients referred to a ter...