Searchable abstracts of presentations at key conferences in endocrinology

ea0022oc2.3 | Thyroid | ECE2010

Allelic discrimination in the diagnosis of somatic BRAF V600E mutation on fine-needle aspiration biopsies

Buratto Mattia , Tagliati Federico , Trasforini Giorgio , Leoni Stefania , Rossi Roberta , degli Uberti Ettore C , Zatelli Maria Chiara

Many studies demonstrated that somatic BRAF gene mutation analysis increases diagnostic accuracy for papillary thyroid carcinoma (PTC), even from very small samples. The gold standard for point mutations research is direct sequencing, that implies DNA extraction, PCR with specific primers, sequencing reaction and run on an automatic sequencer. This is an expensive and time consuming method, and the possible contamination with wild-type DNA not coming from the nodule significan...

ea0022p384 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Real-time PCR is useful to detect menin gene deletions

Zatelli Maria Chiara , Filieri Carlo , Tagliati Federico , Buratto Mattia , Calabro Veronica , Ambrosio Maria Rosaria , degli Uberti Ettore C

Familial pituitary adenoma is frequently associated with germinal mutations of several genes, including menin gene. MEN1 syndrome is an autosomic dominant disease, characterized by parathyroid adenomas, endocrine gastroenteropancreatic tumors, and pituitary adenomas, due to inactivating mutations of the MenI gene (11q13). MEN1 mutations are scattered within and around the menin open reading frame and are mainly represented by single nucleotide polymorphisms (SNPs), and ...

ea0022p385 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Role of piuitary tumour transforming gene 1 in medullary thyroid carcinoma

Zatelli Maria Chiara , Tagliati Federico , Buratto Mattia , Pelizzo Mariarosa , Pansini Giancarlo , Ambrosio Maria Rosaria , degli Uberti Ettore C

Pituitary tumour transforming gene 1 (PTTG1) is over-expressed in a variety of endocrine-related tumors. We investigated PTTG1 expression in human C-cell hyperplasia (CCH), human medullary thyroid carcinoma (MTC) and in the human MTC cell line, TT. PTTG1 expression was significantly higher (P<0.01) in CCH (threefold), in papillary thyroid cancer and in MTC (fivefold) than in normal thyroid, and in MTC lymph-node metastases as compared to primary lesions (approximate...

ea0020p186 | Endocrine tumours and neoplasia | ECE2009

mTOR inhibition influences cell viability of medullary thyroid carcinoma primary cultures

Filieri Carlo , Minoia Mariella , Tagliati Federico , Mole Daniela , Buratto Mattia , Margutti Angelo , degli Uberti Ettore , Chiara Zatelli Maria

Effective medical therapy for persistent/recurrent medullary thyroid carcinoma (MTC) is not available, yet. Everolimus (RAD001) is a Rapamycin derivative, a potent mTOR pathway inhibitor. RAD001 has been employed in several clinical studies demonstrating antiproliferative and apoptotic effects in human tumors, both in vitro and in vivo, also in combination with somatostatin analogs. The aim of our study was to investigate the antiproliferative effects of RAD001 i...