Searchable abstracts of presentations at key conferences in endocrinology

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...

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...

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...

ea0037gp.24.03 | Thyroid–genetics | ECE2015

Evaluation of genetic background of sporadic medullary thyroid carcinomas

Sykorova Vlasta , Dvorakova Sarka , Vcelak Josef , Vaclavikova Eliska , Kodetova Daniela , Lastuvka Petr , Betka Jan , Vlcek Petr , Sykorova Pavla , Bendlova Bela

Objectives: Although, almost all patients with inherited medullary thyroid carcinomas (MTC) harboured RET proto-oncogene mutation, in patients with sporadic MTC, mutations in RET are detected only in half of cases. Thus still unknown genetic causes are responsible for half of sporadic MTC and it is necessary to search for another mutations.Methods: DNAs from fresh frozen thyroid tissues of 27 sporadic MTC were extracted. The next-genera...

ea0056p1183 | Thyroid cancer | ECE2018

Pediatric thyroid cancer is associated with more aggressive phenotype and more frequent RET/PTC rearrangements compared with the adult patients

Bendlova Bela , Sykorova Vlasta , Dvorakova Sarka , Vaclavikova Eliska , Pekova Barbora , Katra Rami , Kodetova Daniela , Lastuvka Petr , Plzak Jan , Bavor Petr , Hoch Jiri , Vlcek Petr , Sykorova Pavla , Vcelak Josef

Thyroid cancer in children and adolescents is a rare disease but with an increasing incidence. As in adults, the most prevalent type is papillary thyroid carcinoma (PTC). Our aim was to describe the clinical and genetic comparison between pediatric and adult PTC. We analyzed the cohorts of 73 pediatric PTC (5-18 years, female to male ratio 2.3:1, 10 patients <10 years) and 460 adult PTC patients. DNA and RNA were extracted from cancer tissue samples. DNA was used for seque...

ea0081ep1026 | Thyroid | ECE2022

Detection of rare variants in BRAF gene in thyroid nodules

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

Objectives: Papillary thyroid carcinoma (PTC) is the most frequent malignant endocrine disease and the most common genetic cause of the PTC is the substitution c.1799T>A (p.V600E) in the BRAF gene (35-70% of PTC) that represents more than 95% of BRAF mutations. Other rare mutations in the BRAF gene include other substitutions (e.g. p.K601E), small deletions or insertions close to codon 600. The aim was to analyze a large cohort of thyroid nodules...

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...

ea0073oc10.2 | Oral Communications 10: Thyroid | ECE2021

NTRK fusion genes in thyroid cancer

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

ObjectivesRearrangement involving one of the neurotrophic-tropomyosin receptor kinase (NTRK) genes belonging to the NTRK family represents a significant oncogenic event in thyroid cancer (TC). Recently, there has been a growing interest in testing and characterizing NTRK fusion genes because they are therapeutically targetable. This study aimed to determine a frequency, clinical and histopathological features of a large cohort ...