Endocrine Abstracts

Background: The activating somatic point mutation, BRAFV600E, is the most common genetic alteration observed in papillary thyroid carcinoma (PTC) but its oncogenic role in PTC has been extensively investigated. Numerous studies reported that BRAFV600E correlates with poor clinical outcome, whereas others have found no such association. It is estimated that BRAFV600E occurs in ~ 45–50% of PTC cases, but recent studies showed the more freque...

Introduction: The activating BRAFV600E is the most common genetic alteration in PTC. There is a common belief that it can correlate with a more aggressive clinical course. The mutation of the CHEK2 gene impairs the repair processes of the damaged DNA. It can be expected that the coexistence of both mutations can be related to a worse clinical course.Aim: To assess the prevalence of the coexistence of the CHEK2 and BRAFV600E mutation...

Introduction: Still there is a discussion about the importance of diagnostic and prognostic relevance BRAFV600E mutation. The wide range of BRAFV600E mutation frequency (40–80%) doesn’t facilitate this task. Population diversity and genotyping methodology are suspected sources of differences seen in the mutation frequencies detected by different studies. The aim of this study was to assess the prevalence BRAF V600...

Introduction: BRAFV600E mutation constitutes 98–99% of all detected mutation in thyroid carcinoma. The remaining 2% are BRAF mutations detected in the vicinity of codon V600. Due to the low incidence not much is known about their importance for the development of papillary thyroid carcinoma (PTC). In addition, some of these mutations co-occur with the mutation BRAFV600E.Methods/design: The study prese...

Introduction: Diagnosis of pheochromocytoma is rarely established in pregnancy, although can cause threat to health and life of foetus and mother. Exact and early diagnosis is crucial for effective treatment.Purpose: The purpose of our study is to present a case of patient with pheochromocytoma and medullary thyroid carcinoma (MCT) – MEN2A syndrome - diagnosed in 9-th week of pregnancy.Material and method: Twenty nine-year-old...

Introduction: Coexistence of the BRAF V600E and TERT promoter mutations may correlate with more aggressive histopathological features and worse course of the disease. According to the American Thyroid Association (ATA) dynamic risk stratification with modified initial estimated risk based on response- to-therapy and disease course allows individual risk assessment and support clinicians in the appropriate management approach to differentiated thyroid cancer (...

Background: A dynamic risk stratification with modified initial estimated risk based on response to therapy and disease course is one of the crucial changes adopted recently by the American Thyroid Association (ATA). The analysis of BRAF status is not routinely recommended by ATA, although this finding may be advantageous to individualized risk-adapted approach in papillary thyroid cancer (PTC). The methods used to detect the BRAF V600E are known of variation...

Introduction: Fine needle aspiration cytology (FNACC) is the basic tool used in the diagnosis of thyroid cancer (TC) in nodular goitre. FNACC does not allow for the establishment of a clear diagnosis in 15–30% of cases (mainly follicular lesions). Molecular biology techniques can be useful, allowing for the detection, in FNACC smears, of the known mutations involved in the oncogenesis.Aim: To evaluate the usefulness of the detection of the BRAF muta...

Introduction: Obesity is a serious health problem worldwide, especially in well developed countries. It is a cause of various diseases, including thyroid cancer. The relationship between obesity and prognostic factors of thyroid cancer is uncertain.Aim of the study: Evaluation of relationship between the body mass index (BMI) and clinicopathological features increasing the risk of poor clinical course, treatment response and clinical outcome in patients ...