Searchable abstracts of presentations at key conferences in endocrinology

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...

ea0090ep145 | Calcium and Bone | ECE2023

Hypocalcaemia induced dilated cardiomyopathy

Drugda Jan , Gabalec Filip , Hegarova Marketa , Lupinek Petr

Introduction: Dilated cardiomyopathy is the third most common reason for heart failure and transplantation worldwide. The etiology of dilated cardiomyopathy often remains unclear, but in certain cases we can discover the cause, which can then contribute to better and more causal treatment.Observation: We present a case of a 47-year-old man without any significant comorbidities in his medical history. In 2015 he underwent two hemithyroidectomies with a ne...

ea0041ep391 | Clinical case reports - Thyroid/Others | ECE2016

The importance of an intraoperative revision of all parathyroid glands, which may reveal additional pathologic changes and lead to an operation extension

Nyvltova Monika , Drbalova Karolina , Krejci Petr , Zavoral Miroslav

We present two case reports of patients who were diagnosed with hyperparathyroidism based on a parathyroid gland adenoma (PTA). The pathological parathyroid tissue was precisely localised by ultrasonography and scintigraphy before the surgery. In both cases all four parathyroid glands were revised by the surgeon resulting in an operation extension. Another parathyroid gland was removed and histologically confirmed as PTA. This surgeon’s approach was beneficial for the pat...

ea0037ep716 | Pituitary: clinical | ECE2015

Escape from response to long-term pasireotide treatment in recurrent Cushing's disease

Gabalec Filip , Husek Petr , Pacovsky Jaroslav , Cap Jan

Introduction: A transsphenoidal adenectomy (TSFE) is primary treatment of Cushing’s disease. Pharmacological management when the disease persists after surgery is a challenge.Case report: A 47-year-old man was initially diagnosed with CD (petrosal sinus sampling with CRH testing included) after suffering from multiple organ failure in sepsis. Microadenoma 2×4 mm was suspected on the pituitary MRI. Clinical symptoms were markedly improved after ...

ea0035p278 | Clinical case reports Thyroid/Others | ECE2014

Giant mediastinal parathyroid cyst with hyperparathyroidism: a case report

Gabalec Filip , Svilias Ioannis , Hornychova Helena , Habal Petr , Cap Jan

Primary hyperparathyroidism (PHPT) is rarely caused by parathyroid adenoma with cystic degeneration, especially by the cyst localized in mediastinum. Both differential diagnosis of mediastinal cyst and management of the patient can be challenging.Case presentation: A 57 years old woman was transferred from district hospital where her urosepsis and nephrolithiasis had been treated successfully. A liquid collection in left hemithorax had also been found du...

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...

ea0016p397 | Neuroendocrinology | ECE2008

Pharmacological prevention of long-term neuroendocrine and behavioral changes in prenatally stressed rats

Reznikov Alexander , Nosenko Nadezhda , Tarasenko Larisa , Sinitsyn Petr

Maternal stress modifies fetal programming of neuroendocrine development and behavior. These effects are mediated by maternal and fetal corticosteroids and opioids. We evaluated an ability of pharmacological prevention of long-term behavioral and hypothalamic–pituitary–adrenal (HPA) disorders in adult rat offspring induced by daily 1 h maternal immobilization during the last gestational week. Dexamethasone (Dex; 0.1 mg/kg per day) or naltrexone (Ntx; 10 mg/kg per day...

ea0014p99 | (1) | ECE2007

The genetic association of medullary thyroid carcinoma with Hirschsprung’s disease

Dvorakova Sarka , Vaclavikova Eliska , Skaba Richard , Vlcek Petr , Bendlova Bela

Medullary Thyroid Carcinoma (MTC) can be associated with Hirschsprung’s disease (HSCR). Mutations in exon 10 of the RET proto-oncogene were found in patients with co-occurrence of HSCR and MTC. The aim of the study was to screen the MTC risk exons in patients with HSCR. The genetic analysis comprised 73 HSCR patients (53 males, 20 females) who were operated on and followed-up during 2001-2006. The cohort consisted of 48 patients with classical HSCR, 11 with long colonic a...

ea0014p564 | (1) | ECE2007

Immunohistochemistry of pure growth hormone-containing and mixed growth hormone/prolactin-containing pituitary adenomas

Marova Evgeniya , Yushkov Petr , Molitvoslovova Natalja , Luljeva Elena

Transsphenoidal surgery is the most efficient primary treatment for acromegaly. However, some patients do not meet remission criteria after operation. Mixed growth hormone (GH)/prolactin (PRL)-secreting pituitary adenomas are known to predict poor surgical outcome. The aim of our study was to evaluate immunohistochemical markers in pure GH-and mixed GH/PRL-containing tumors and to investigate their prognostic value. In our study we included 39 acromegalic patients, who underwe...