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...

ea0022p430 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Intronic polymorphism IVS14-24G/A of the RET proto-oncogene seems to be protective for sporadic medullary thyroid carcinoma development

Vaclavikova Eliska , Sykorova Vlasta , Dvorakova Sarka , Vlcek Petr , Bendlova Bela

Background and aims: Medullary thyroid carcinoma (MTC) occurs as a sporadic or less commonly as an inherited form which comprises multiple endocrine neoplasia (MEN) type 2A and 2B and familial MTC. Whereas over 95% of patients with MEN2 syndrome have a germline missense mutation in the RET proto-oncogene, the detection rate of germline mutations in FMTC patients is lower as well as the detection rate of somatic mutations in sporadic MTC tumor tissues. In this context, s...

ea0037oc6.5 | Thyroid | ECE2015

Search for new candidate genes in RET mutation-negative families with hereditary medullary thyroid carcinoma using next generation sequencing

Vaclavikova Eliska , Dvorakova Sarka , Sykorova Vlasta , Vcelak Josef , Halkova Tereza , Vlcek Petr , Bendlova Bela

Introduction: Hereditary medullary thyroid carcinoma (MTC) is associated with only one major cause – germline mutations in the RET proto-oncogene. The most of tested families with MTC is related to specific RET mutation, however, very small number of families left unresolved without the causing inherited mutation. New techniques of next generation sequencing give hope in finding the new candidate genes that could be involved in the pathogenesis of these ...

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...

ea0073ep201 | Thyroid | ECE2021

Encapsulated follicular tumours of uncertain biological behaviour – clinicopathological and molecular analysis

Lukas Jindrich , Vorackova Alzbeta , Hintnausova Barbora , Sykorova Vlasta , Syrucek Martin , Duskova Jaroslava

BackgroundThe latest WHO classification of tumours of endocrine organs defines new units of borderline thyroid tumours (BTT) of uncertain biological behaviour. The aim of our study was to evaluate ultrasonographic, cytological features, mutation profile and surgery treatment in patients with these rare tumours.MethodsThe analysis of 8 out of 487 operated patients, who underwent thyroid surgery between June 20...

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. ...

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...