Searchable abstracts of presentations at key conferences in endocrinology

ea0084ps3-14-131 | Thyroid Cancer CLINICAL 2 | ETA2022

Somatic BRAF V600E mutation in a patient with medullary thyroid carcinoma

Vaclavikova Eliska , Pekova Barbora , Sykorova Vlasta , Moravcova Jitka , Mastnikova Karolina , Novak Zdenek , Drozenova Jana , Chovanec Martin , Vcelak Josef , Bendlova Bela

Introduction: Medullary thyroid carcinoma (MTC) is a calcitonin-producing tumor that predominantly occurs in a sporadic form (75%) and less commonly in an inherited form. Besides activating germline mutations of the RET proto-oncogene in hereditary syndromes of MEN2, somatic RET mutations are detectable in about 50% of sporadic MTC. Further, also RAS mutations have been discovered in 30% of RET-negative tumor tissues. Other genetic alteratio...

ea0070aep951 | Thyroid | ECE2020

The importance of molecular-genetic examination in a patient with sonographically suspected but cytologically benign thyroid nodule

Laburda Milos , Vondra Karel , Pekova Barbora , Dvorakova Sarka , Sykorova Vlasta , Moravcova Jitka , Vaclavikova Eliska , kuklik Miloslav , Vcelak Josef , Bendlova Bela , Drozenova Jana

Introduction: Differential diagnosis of thyroid nodules is one of the most frequently solved problems in the endocrinological practice. It is always necessary to determine their biological nature, which will decide about further therapeutic procedure, especially about early surgery in case of proven malignancy. In addition to sonographic examination and fine needle aspiration biopsy (FNAB), now we can also use the possibilities of molecular-genetic examination.<p class="ab...

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...

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 ...

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...