Endocrine Abstracts

Background: Medullary thyroid carcinoma (MTC) is a rare calcitonin producing neuroendocrine tumour that originates from parafollicular C-cells of the thyroid gland. RET proto-oncogene germline mutations are crucial for the onset and the progression of MTC, and the occurrence of single nucleotide polymorphisms could predispose the clinical course of disease. The objective of this study was to evaluate possible differences in clinical presentation among patients with/without RET...

Background: Medullary thyroid cancer (MTC) makes up to 5–10% of all cases of thyroid malignancies. The clinical course of MTC varies from an extremely indolent tumour to an aggressive variant that is associated with a high mortality rate. RET proto-oncogene germline mutations are crucial for the onset and the progression of MTC. The aim of this study was to evaluate the L769L (subgroup L) and S836S (subgroup S) allele frequencies in patients with sporadic MTC (group A, <e...

Medullary thyroid cancer (MTC) is a form of thyroid carcinoma which originates from the calcitonin-secreting neuroendocrine parafollicular cells of the thyroid. It accounts for 5–10% of all thyroid cancers, and it mostly occurs as a sporadic entity (sMTC), but a familial pattern is also possible. Somatic mutations of RET are reported in 20–80% of sMTCs. The majority of MTCs harbour a RET M918T-exon 16 mutation. In sporadic MTCs the RET gene is mutated in codon 918, w...

Introduction: Follicular thyroid cancer (FTC) account for approximately 15% of all thyroid malignancies, with about 65 % being conventional and 35 % Huürthle cell type. Recently a PAX8-PPARγ gene fusion was detected in a significant portion of FTCs, some with a chromosomal translocation t(2;3)(q13;p25). The t(2;3) rearrangement leads to an in-frame fusion of the PAX8 gene, which encodes a transcription factor, with the peroxisome proliferator-activa...

Nearly one third of women diagnosed with invasive breast cancer are younger than 50 years with regular menstrual cycles. 60% of these tumors express estrogene and progesterone receptors. Common treatment procedure is surgery followed by chemotherapy, radiotherapy and hormone therapy. Often in younger patients chemotherapy causes permanent amenorrhoea. In case that menses afterwards occurs ovarial suppression is needed, mostly by goserelin, LH-RH agonist. The principle of thera...

Introduction: Neuroendocrine tumors (NET) arise from tissue mucosal cells known as enterochromaffin cells. The clinical behavior of NET has been recognized over the past 30 years and genome analysis are needed for further follow up. Here we conduct integrated genome analyses on data from chromosomal gene copy number and transcriptome sequencing as well as analysis of overal survival of patients diagnosed with NET.Material and methods: The study accrued 6...

IntroductionInsulinoma-associated-1 (INSM1), encoded by the INSM1 gene is key factor in pancreatic endocrine, sympatho-adrenal and pan-neurogenic development. It has also been identified in multiple tumors of neuroendocrine origin but not thoroughly investigated as a potential neoplastic biomarker. The aim of the study was to evaluated INSM1 as a semiquantitative immunohistochemical biomarker as well as quantitative reverse transcriptase polymer...

Purpose: Papillary thyroid cancer (PTC) is the most common thyroid and endocrine malignancy worldwide. Vitamin D (calciferol or 25-hydroxyvitamin D) (25(OH)D) has been postulated as a key modulator in several cancer-related pathways, although its contribution to PTC still remain controversial. The aim of the study was to analyse the correlation between 25(OH)D serum levels and 25(OH)D insufficiency as well as the risk of development of PTC and its variants: classical type (CV-...

Purpose: Papillary thyroid cancer (PTC) accounts for approximately 80% of all thyroid cancers and is defined by its unique cytologic and histologic features. Mutations of the RET and BRAF/V600 genes are found in nearly 70% of PTC cases. They are able to trigger the activation of mitogen-activated protein kinase pathways and to promote neoplastic cell proliferation. Genetic events may further lead to numerous different cell variants of PTC which may be identified via t...

Introduction: Neuroendocrine tumors (NETs) are rare tumours that develop in cells of the neuroendocrine system. They comprise a heterogeneous group of neoplasms that range from the benign and multi-focal to the highly malignant and metastatic. Here we conduct itegrated genome and immunohistochemistry analysis (IHC) of the Ataxia Telangiectasia Mutated Gene (ATM) as well as analysis of overal survival in patients diagnosed with NETs.Material and Methods: ...