Searchable abstracts of presentations at key conferences in endocrinology

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 ...

ea0022p427 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Polymorphisms in RET gene are associated with RET/PTC rearrangements in papillary thyroid carcinoma (PTC)

Sykorova Vlasta , Vaclavikova Eliska , Dvorakova Sarka , Ryska Ales , Kodetova Daniela , Vlcek Petr , Bendlova Bela

RET proto-oncogene is activated in the development of PTC via RET/PTC rearrangements. Single nucleotide polymorphisms (SNPs) of the gene are associated with PTC in some studies. We investigated possible association of SNPs with RET/PTC in Czech patients. We analyzed 234 patients with PTC (101 fresh frozen thyroid samples, 133 paraffin-embedded formalin-fixed samples) and 172 controls. RNA from frozen samples was reversely transcribed to cDNA. RET/PTC</i...

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...

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...

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...

ea0035p1101 | Thyroid Cancer | ECE2014

The influence of polymorphisms in tumor suppressor genes in thyroid carcinomas

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

Introduction: Thyroid carcinomas are the most often endocrine malignancy and their incidence is still growing. Thus, the finding of genetic predispositions to the thyroid cancer is desired. One of the genetic causes can be risk variants of tumor suppressor genes in patients. Our goal was to determine the influence of polymorphisms Val109Gly (T/G) in gene CDKN1B encoding protein p27/Kip1 and Arg72Pro (C/G) in gene TP53 encoding protein p53 on the development of thyroid cancer. ...

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...

ea0092ps3-28-05 | Translational 2 | ETA2023

Pediatric thyroid nodules with germline and somatic DICER1 variants

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

Objectives: Pathogenic variants in the DICER1 gene can be found in both benign and malignant thyroid nodules, more often in pediatric patients. Somatic pathogenic variants in "hotspot" regions can coexist with germline variants in other regions of the DICER1 gene, which are associated with DICER1 syndrome, an autosomal dominantly inherited disease that predisposes to the development of various tumors from childhood. In addition to thyroid tumors, pleu...

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...