Searchable abstracts of presentations at key conferences in endocrinology

ea0081p717 | Thyroid | ECE2022

DICER1 mutations in pediatric thyroid nodules

Mastnikova Karolina , Pekova Barbora , Sykorova Vlasta , Moravcova Jitka , Vaclavikova Eliska , Vlcek Petr , Katra Rami , Kodetova Daniela , Vcelak Josef , Bendlova Bela

Objectives: Mutations in the DICER1 gene represent driver events in development of pediatric thyroid nodules, malignant as well as benign. The occurrence of these mutations has been reported in differentiated thyroid carcinomas, poorly differentiated thyroid carcinomas, non-invasive follicular thyroid neoplasms with papillary-like nuclear features (NIFTPs), multinodular goiters and follicular adenomas. The aim of this study was to detect mutations in DICER1 g...

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...

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...

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...

ea0063gp91 | Thyroid Nodules and Cancer | ECE2019

Detection of EIF1AX, CHEK2 and PPM1D gene variants in thyroid carcinomas

Dvorakova Sarka , Pekova Barbora , Sykorova Vlasta , Vacinova Gabriela , Vaclavikova Eliska , Moravcova Jitka , Katra Rami , Vlcek Petr , Sykorova Pavla , Plzak Jan , Bavor Petr , Kodetova Daniela , Chovanec Martin , Vcelak Josef , Bendlova Bela

Objectives: The identification of novel causing genes in thyroid carcinoma is very important in diagnosis and prognosis of the disease. Recently, The Cancer Genome Atlas (TCGA) study found EIF1AX, CHEK2 and PPM1D genes as new minor causing genes in the papillary thyroid cancer (PTC) development. The goal of this study was to detect variants in these genes in PTC, follicular thyroid carcinoma (FTC) and anaplastic thyroid carcinoma (ATC) cohorts.<p class="a...

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...