Searchable abstracts of presentations at key conferences in endocrinology

ea0081p470 | Thyroid | ECE2022

McCune-Albright syndrome diagnosed in adulthood with GNAS mutation-related hyperthyroidism and elevated anti-TPO antibodies. Case report.

Zajickova Katerina , Sykorova Vlasta , Mastnikova Karolina , Vcelak Josef

McCune-Albright syndrome (MAS) is a rare mosaic disorder caused by a postzygotic activating mutation in the GNAS gene encoding the G protein alpha subunit. Although clinical manifestations may be heterogeneous, MAS is often characterized by the triad of fibrous dysplasia, café-au-lait skin pigmentations and hyperfunctioning endocrinopathy. We report here a 58-year old woman who presented for evaluation of hyperthyroidism, associated with nodular thyroid disease and elevat...

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...

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...

ea0081ep1025 | Thyroid | ECE2022

Routine molecular testing of fine needle aspiration biopsies of thyroid nodules

Sykorova Vlasta , Moravcova Jitka , Vaclavikova Eliska , Pekova Barbora , Mastnikova Karolina , Vcelak Josef , Novak Zdenek , Pacesova Petra , Grimmichova Tereza , Jiskra Jan , Bendlova Bela

Objectives: Fine needle aspiration biopsy (FNAB) together with ultrasonography is a necessary tool for diagnosis and follow up of thyroid nodules. Molecular testing is increasingly used mainly for indeterminate categories of the Bethesda System for Reporting Thyroid Cytopathology revised in 2017. Our aim was to introduce a routine molecular analysis of the main genetic causes of thyroid cancer.Methods: Since 2017 we have analyzed 1171 samples of patients...

ea0084ps3-15-138 | Thyroid Cancer Diagnosis & Treatment | ETA2022

Routine molecular analysis of fine-needle aspiration biopsies of thyroid nodules

Sykorova Vlasta , Moravcova Jitka , Vaclavikova Eliska , Pekova Barbora , Mastnikova Karolina , Vcelak Josef , Novak Zdenek , Pacesova Petra , Grimmichova Tereza , Jiskra Jan , Bendlova Bela

Objectives: Molecular testing of fine-needle aspiration biopsy (FNAB) samples is increasingly used mainly for indeterminate categories of the Bethesda System for Reporting Thyroid Cytopathology. Our aim was to introduce a routine molecular analysis of the main genetic causes of thyroid cancer.Methods: In total, 1354 FNAB samples of thyroid nodules were analyzed. Testing procedures mainly in samples evaluated as Bethesda categories III and above were grad...

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...