Searchable abstracts of presentations at key conferences in endocrinology

ea0070aep127 | Bone and Calcium | ECE2020

Familial hypocalciuric hypercalcemia in a young man: Grey zones of the differential diagnosis in 10-year clinical follow up

Zajickova Katerina , Moravcova Jitka , Včelák Josef

Herein, we report currently a 39-year old male with a 13-year history of asymptomatic hypercalcemia (mean 2.88 mmol/l; reference range 2.15–2.55 mmol/l) and mildly elevated parathyroid hormone (mean 68.7 ng/l; reference range 15–65 ng/l). Initially, in years 2007–2010 his laboratory picture was compatible with the diagnosis of Familial hypocalciuric hypercalcemia (FHH) with calcium-to-creatinine clearance ratio (Ca/Cr) between 0.008–0.009.Genetic testin...

ea0070aep864 | Thyroid | ECE2020

Multiple endocrine neoplasia Type 1 (Men1) – genetic variants of Men1 gene in the czech population

Lukasova Petra , kuklik Miloslav , Vankova Marketa , Vondrkova Nela , Vejrazkova Daniela , Moravcova Jitka , Vcelak Josef , Bendlova Bela

Introduction: Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant hereditary tumor syndrome. Common manifestations include more than 20 tumors of the parathyroid, pituitary and pancreatic glands and others non-endocrine tumors. The majority of patients carry a germline mutation in a tumor-suppressor gene MEN1, that encodes nuclear protein menin, ubiquitously expressed. So fare, more than 600 germline or somatic mutations have been reported over the...

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...

ea0073aep129 | Calcium and Bone | ECE2021

CDC73 associated primary hyperparathyroidism and essential tremor

Eliška Svobodová , Rehorkova Pavla , Vcelak Josef , Moravcova Jitka , Havlinova Barbora , Gabalec Filip , Cap Jan

ObjectivePrimary hyperparathyroidism (PHPT) is a common endocrine disorder affecting 2% of the population aged 55 years or older. Primary hyperparathyroidism is due to parathyroid adenoma in about 85% of cases, parathyroid hyperplasia in about 15% of cases, and parathyroid carcinoma in less than 1% of cases. Familial parathyroid disorders are responsible for 10% of the PHPT cases and include among other disorders caused by parafibromin malfunction. Paraf...

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...

ea0081p294 | Calcium and Bone | ECE2022

Genetic testing in patients with primary hyperparathyroidism before surgery

Matejkova Behanova Magdalena , Vcelak Josef , Moravcova Jitka , Personova Katerřina , Vaculova Marketa , Chmelova Renata , Junkova Kristyna , Ježkova Jana , Fialova Martina , Libansky Petr

Introduction: Familial and hereditary forms of primary hyperparathyroidism (PHPT) represent a small minority of all patients with PHPT (5 – 10%). The surgical approach is different in such cases than in sporadic PHPT. Hereditary PHPT may be syndromic (multiple endocrine neoplasia: MEN – type 1, 2A or 4 and others) or nonsyndromic (familial isolated PHPT). The aim of the study was to identify and describe hereditary and familial forms of PHPT in patients referred to p...

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...

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...