Endocrine Abstracts

Introduction: The importance of telomerase reverse transcriptase promoter (TERTp) mutations in DTC is widely discussed. It has been demonstrated that the presence of TERTp mutations is associated with higher cancer aggressiveness, reflected by lymph node metastases, distant metastases, advanced tumor stage, recurrence, and even disease-specific mortality. Nevertheless, there is no clear evidence-based data demonstrating how to manage these patients. Therefore...

Aim of the study: Medullary thyroid cancer (MTC) occurs as hereditary and sporadic form. Hereditary type is a consequence of RET proto-oncogene germline mutations also somatic RET mutations are detectable in sporadic MTC tumors. There is a significant relation between site of mutation and the cancer phenotype as well as a clinical course of the MEN 2 Syndrome as a consequence of the different transforming potential of the RET gene mutations. The aim ...

Objectives: Recent studies on BRAFV600E mutation, known as initiating event in papillary thyroid carcinoma (PTC) and related to more aggressive clinical course of the disease, revealed its significant influence on gene expression profile suggesting that BRAF(+)PTCs represent a molecular subtype of PTC. However, the human material disables distinction of possible molecular causes of cancer from its effects, unlike the mouse model. The main goal of our project was to find genes ...

Introduction: Medullary thyroid carcinoma (MTC) is a malignant thyroid tumor originating from parafollicular C-cells. Most of MTCs (75%) are sporadic while remaining are hereditary. The hereditary form of MTC is a consequence of the mutation of the proto-oncogene RET (Rearranged During Transfection). Somatic mutations of the RET gene are also present in 40%-70% of the sporadic form of MTC (sMTC). Somatic mutations are also observed in the RAS genes and very rarely in the BRAF ...

Introduction: BRAFV600E mutation is the most frequent alteration in papillary thyroid carcinoma (PTC). Although its relation to factors of poor prognosis was demonstrated in many studies the use of BRAF as a predictive marker in clinical treatment of PTC patients is controversial. The aim of our study was to analyze molecular consequences of BRAFV600E mutation in a transgenic mouse model performed for this purpose and to refer the obtained results to...

Introduction: Follicular adenomas (FTA) and carcinomas (FTC) are thyroid tumours that are indistinguishable in the fine needle aspiration biopsy (FNAB). In our previous research we concentrated on post-operative material and developed the classifier, which discriminates the FTC and FTA, based on formalin-fixed paraffin-embedded (FFPE) material. The classifier was based on expression of five genes and gave the promising sensitivity of 71% and specificity of 72%. The aim of the ...

Introduction: Discovery of V600E (BRAFT1799A) mutation in papillary thyroid carcinoma (PTC) widened our knowledge about mechanisms of its molecular initiation. It has been revealed that activating mutations of the BRAF kinase are much more frequent in PTC than RET rearrangements.Aim of the study: Estimation of V600E BRAF mutation frequency in PTC and analysis of differences in gene expression profile between papillary thyroid car...

Introduction: Gain of function mutations of RET protooncogene are associated with hereditary medullary thyrpoid cancer. There are mainly specific hot-spot RET gene mutations however they may differ between population.Aim of the study: In this study we report the prevalence of RET mutations in Polish population based on 20 years of experience of referral polish centers.Material and methods: RET ge...