Searchable abstracts of presentations at key conferences in endocrinology

ea0022p440 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Use of recombinant human thyroid-stimulating hormone (rhTSH) in children and adolescents with differentiated thyroid cancer

Mackova Marketa , Sykorova Pavla , Vlcek Petr

Paediatric thyroid cancer is rare but belongs to the most frequent malignancies in children and its incidence increases. The difference from adult disease subsists in good curability despite of quicker proliferation and earlier development of metastases. Influence of previous radioactivity exposure in the pathogenesis has been proven.For the optimal uptake of radioiodine 131I in the post-operative thyroid remnants it’s necessary to achiev...

ea0022p448 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Conditions and implications of rhTSH application for ablation in treatment of Differentiated thyroid cancer

Sykorova Pavla , Mackova Marketa , Vlcek Petr

A basic tool of the thyroidal cancer treatment is the total thyroidectomy. Immediately after the thyroidectomy, the patients receive a thyroxin. In the case of positive histology after lobectomy, we first indicate the total thyroidectomy. If the tumor is larger than 1 cm or if is a multifocal one, we indicate the ablation of the remnant with I131.Usually, the differentiated thyroid cancer is non-aggressive and we proceed with a standard way of...

ea0022p806 | Thyroid | ECE2010

Scintigraphy 131I-mIBG in patient with positive ret germline mutation for medullary thyroid carcinoma

Vlcek Petr , Zimak Jaroslav , Sykorova Pavla

Purpose: Familial medullary thyroid carcinoma (FMTC) is an autosomal dominant inherited disease, characterized by germ-line mutations in the RET proto-oncogene, mainly in exons 10 and 11, but also in exons 13, 14 and 15. Activating germ-line mutations in the RET proto-oncogene cause the development of familial medullary thyroid carcinoma (FMTC) or medullary thyroid carcinoma (MTC) as a part of multiple endocrine neoplasia type 2 syndrome (MEN2).Me...

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...

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...

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...

ea0022p819 | Thyroid | ECE2010

Haemorheopheresis in the treatment of Graves' ophtalmopathy: A randomized study

Skacha Michal , Ceeova Vera , Cap Jan , Vlcek Petr , Blaha Milan , Rezek Pavel

The aim of this study was to perform a randomized study to evaluate the role of haemorheopheresis in the treatment of severe thyroid associated ophtalmopathy (TAO). Twenty patients were enrolled. All patients were treated with methylprednisolone i.v. pulses (Solumedrol 1 g i.v. three times a week for 3 weeks – 9 pulses altogether). Ten randomly chosen patients were also subjected to haemorheopheresis (twice weekly for 2 weeks and than once in 3 weeks – 10 procedures ...

ea0014oc3.4 | Endocrine tumors &amp; neoplasia | ECE2007

RET mutation – Tyr791Phe – the genetic cause of different diseases derived from neural crest

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

Familial medullary thyroid carcinoma (MTC), multiple endocrine neoplasia types 2A and 2B (MEN2A, 2B) and Hirschsprung disease (HSCR) are inherited neurocristopathies linked to germline mutations in the RET proto-oncogene. Activating germline RET mutations are presented in patients with FMTC, MEN2A and MEN2B, on the other hand, inactivating germline mutations in patients with HSCR. Nevertheless, there is an overlay in specific mutations in the exon 10 of the RET proto-oncogene....

ea0099ep1348 | Late Breaking | ECE2024

Mild hypercalcemia and osteoporosis in a patient with breast cancer: case report

Matejkova Behanova Magdalena , Libansky Petr , Personova Kateřina , Vcelak Josef , Procykova Kristyna , Vlcek Petr

Introduction: The most common causes of hypercalcemia are primary hyperparathyroidism and malignancy. Malignancy-related hypercalcemia occurs in approximately 20% - 30% of all cancer patients during their clinical course and mainly affects patients with solid tumors such as breast carcinoma.Case Report : 57 yrs old woman was referred for hypercalcemia and osteoporosis. Laboratory: calcium 2.8 mmol/l (normal range 2.15 - 2.55) calculated ionized calcium 1...