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...

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...

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...

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...

ea0073aep739 | Thyroid | ECE2021

Thyroid cancer detection in routine clinical setting-pilot study

Grimmichova Tereza , Petra Pačesová , Hill Martin , Vaclavikova Eliska , Pekova Barbora , Moravcova Jitka , Vrbikova Jana , Novak Zdenek , Sykorova Vlasta

BackgroundMost thyroid nodules are benign, but therefore it is crucial to correctly stratify the malignancy risk of nodules to avoid unnecessary invasive procedures and/or surgery, but and still identify aggressive tumors. The aim of our study was to address the potential for improvement of malignancy detection in routine clinical setting using clinical examination, risk stratification of thyroid nodules on ultrasound using the American College of Radiol...

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...

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...