Searchable abstracts of presentations at key conferences in endocrinology

ea0014p121 | (1) | ECE2007

Analysis of BRAF point mutation in papillary thyroid carcinoma

Sykorova Vlasta , Dvorakova Sarka , Laco Jan , Ryska Ales , Kodetova Daniela , Astl Jaromir , Vesely David , Bendlova Bela

BRAF point mutations are found in 29-69% of papillary thyroid carcinoma (PTC). BRAF is a serine-threonine kinase involved in the phoshorylation of MAPK signaling pathway. The mutation is located in the exon 15 of BRAF, resulting in the substitution of valine to glutamate at codon 600 (V600E). Mutation generates unregulated B-Raf activity that leads to increased cellular proliferation. The aim of this study was to determine the frequency of BRAF mutation in the Czech population...

ea0081oc3.6 | Oral Communications 3: Thyroid 1 | ECE2022

RET Fusion Genes in Thyroid Carcinomas

Pekova Barbora , Sykorova Vlasta , Mastnikova Karolina , Vaclavikova Eliska , Moravcova Jitka , Vlcek Petr , Lastuvka Petr , Katra Rami , Bavor Petr , Kodetova Daniela , Chovanec Martin , Drozenova Jana , Astl Jaromir , Hrabal Petr , Vcelak Josef , Bendlova Bela

Objective: RET fusion genes are known driver mutation in thyroid cancer and have been described mainly in pediatric thyroid carcinomas, in which they represent the most common genetic alteration. In large cohorts of adult patients, RET fusions have not yet been well characterized. The aims of this study were to identify RET fusion-positive thyroid tumors in a cohort of different types of thyroid carcinomas and to correlate them with clinical and hist...

ea0084op-07-35 | Oral Session 7: Thyroid Cancer Basic | ETA2022

RET fusion genes in a large cohort of papillary thyroid carcinomas

Pekova Barbora , Sykorova Vlasta , Mastnikova Karolina , Vaclavikova Eliska , Moravcova Jitka , Vlcek Petr , Katra Rami , Lastuvka Petr , Bavor Petr , Kodetova Daniela , Chovanec Martin , Drozenova Jana , Astl Jaromir , Hrabal Petr , Vcelak Josef , Bendlova Bela

Objectives: RET fusion genes are known driver mutations in papillary thyroid carcinomas (PTCs) and have been described mainly in pediatric PTCs, in which they represent the most common genetic alteration. The aims of this study were to identify RET fusion genes in PTCs (from pediatric as well as adult patients), to correlate them with clinical and histopathological features and to determine the prognostic significance of RET fusion genes based on lon...

ea0084ps2-08-74 | Thyroid Cancer BASIC | ETA2022

EIF1AX gene variants in the context of thyroid tumorigenesis

Mastnikova Karolina , Pekova Barbora , Sykorova Vlasta , Moravcova Jitka , Vaclavikova Eliska , Vlcek Petr , Lastuvka Petr , Katra Rami , Bavor Petr , Kodetova Daniela , Chovanec Martin , Drozenova Jana , Astl Jaromir , Hrabal Petr , Vcelak Josef , Bendlova Bela

Objectives: Variants in the EIF1AX gene have been reported in malignant as well as benign thyroid nodules and their clinical significance is still unclear due to their low prevalence. The aim of this study was to identify EIF1AX variants in a large cohort of different types of thyroid nodules and to correlate them with clinical and pathological data.Methods: The study consisted of 904 thyroid nodule samples. The cohort included 577 papi...

ea0092op-12-05 | Oral Session 12: Emerging Insights into Thyroid Cancer Genetics | ETA2023

Braf fusion genes in a large cohort of thyroid carcinomas

Bulanova Barbora , Sykorova Vlasta , Mastnikova Karolina , Vaclavikova Eliska , Moravcova Jitka , Vlcek Petr , Lastuvka Petr , Katra Rami , Bavor Petr , Novakova Kodetova Daniela , Chovanec Martin , Drozenova Jana , Astl Jaromir , Hrabal Petr , Vcelak Josef , Bendlova Bela

Objectives: Effective patient management is about finding a balance between overtreatment and undertreatment. Finding the border is very difficult due to the hardly predictable development of carcinoma. Molecular markers and their testing could help distinguish between low-grade and high- grade carcinomas. One of these molecular markers is a BRAF fusion gene. The aim of this study was to identify BRAF fusion genes in thyroid carcinomas, to correlate them with...

ea0099p367 | Thyroid | ECE2024

ALK fusion genes in a large cohort of thyroid carcinomas

Bulanova Barbora , Kuklikova Vlasta , Mastnikova Karolina , Vaclavikova Eliska , Carkova Jitka , Vlcek Petr , Lastuvka Petr , Katra Rami , Bavor Petr , Kodetova Daniela , Chovanec Martin , Drozenova Jana , Astl Jaromir , Soukup Jiri , Vcelak Josef , Bendlova Bela

Objectives: ALK fusion genes are a rare genetic alteration and have been described in various t types of thyroid carcinomas, particularly in papillary thyroid carcinomas (PTCs), poorly differentiated thyroid carcinomas (PDTCs) and anaplastic thyroid carcinomas (ATCs). The aim of this study was to identify ALK fusion genes in thyroid carcinoma samples, correlate them with clinical and histopathological features, and determine the prognostic significance of <em...

ea0099p376 | Thyroid | ECE2024

PTEN variants in thyroid tumors of czech patients

Mastnikova Karolina , Bulanova Barbora , Kuklikova Vlasta , Vaclavikova Eliska , Carkova Jitka , Hrckulakova Karolina , Katra Rami , Vlcek Petr , Kodetova Daniela , Chovanec Martin , Drozenova Jana , Matej Radoslav , Astl Jaromir , Hlozek Jiri , Soukup Jiri , Vcelak Josef , Bendlova Bela

Objectives: Phosphatase and tension homolog (PTEN) is a part of signal pathways which are essential for cell proliferation, cell cycle progression, and apoptosis. Variants in the PTEN gene occur in different types of thyroid tumors with unclear diagnostic and prognostic impact. Most variants are somatic, but they can also be germline, which are associated with PTEN hamartoma tumor syndrome (PHTS). PHTS includes Cowden syndrome, which is characterized by hamartomas, an...

ea0101ps2-11-08 | Basic thyroid cancer research-1 | ETA2024

TSHR variants in benign and malignant thyroid tumors

Bendlova Bela , Bulanova Barbora , Mastnikova Karolina , Kuklikova Vlasta , Vaclavikova Eliska , Carkova Jitka , Vlcek Petr , Lastuvka Petr , Katra Rami , Bavor Petr , Kodetova Daniela , Chovanec Martin , Drozenova Jana , Astl Jaromir , Soukup Jiri , Vcelak Josef

Background: Variants of the TSHR gene occur in different types of thyroid tumors. The importance of their molecular testing and the clinical impact is unclear. The aim of this study was to detect TSHR variants in a large cohort of malignant, low-risk and benign thyroid tumors and correlate them with clinical and histopathological data.Methods: The cohort consisted of 885 fresh frozen thyroid tumor samples (455 malignant tumors, 52 low-r...

ea0101ps3-24-07 | Translational thyroid cancer research-2 | ETA2024

DNA methylation in the thyroid tumors with known gene alteration

Mastnikova Karolina , Bulanova Barbora , Kuklikova Vlasta , Vaclavikova Eliska , Carkova Jitka , Katra Rami , Vlcek Petr , Kodetova Daniela , Chovanec Martin , Drozenova Jana , Matej Radoslav , Astl Jaromir , Hlozek Jiri , Soukup Jiri , Vcelak Josef , Bendlova Bela

Objectives: Molecular testing of thyroid tumors is increasingly being used for the diagnosis and prognosis of patients. In some cases, however, the same gene variant may be present in both benign and malignant thyroid tissue. The issue is also a different nature (aggressiveness) of carcinomas of the same genetic origin. Comparing of DNA methylation profiles of these samples could be a possible way of distinguishing these cases. Aim of this pilot study was to analyze the DNA me...