Searchable abstracts of presentations at key conferences in endocrinology

ea0041gp228 | Thyroid Cancer | ECE2016

Genetic heterogeneity of thyroid cancer

Colombo Carla , Perrino Michela , Muzza Marina , Cirello Valentina , Fugazzola Laura

There are growing evidences suggesting the existence of intra-tumor heterogeneity within the same patient, leading to a different genetic pattern between primary tumour and metastases.We report a paradigmatic example of genetic heterogeneity in thyroid cancer (TC). A 42 years old female patient was submitted, for a follicular TC, to total thyroidectomy and lymphadenectomy followed by radioiodine residue ablation in late 1999. In 2000 and 2001 diagnostic ...

ea0041oc14.3 | Thyroid Cancer | ECE2016

Tert and the oxidative stress in papillary thyroid cancer

Muzza Marina , Colombo Carla , Cirello Valentina , Perrino Michela , Vicentini Leonardo , Fugazzola Laura

Abstract: During hormonogenesis, thyroid cells are physiologically exposed to high levels of reactive oxygen species (ROS) which could either be involved in the pathogenesis of thyroid cancer or exert a cytotoxic effect. We analyzed the oxidative status of papillary thyroid cancer (PTC) either directly, by measuring H2O2 generation by NADPH oxidases (NOXs), and indirectly, by evaluating the antioxidant activity of glutathione peroxidase (GPX), which neutr...

ea0022h1.5 | Oral Communications Highlights 1 | ECE2010

ESE Young Investigator Award

Cirello Valentina , Muzza Marina , Castorina Pierangela , Beck-Peccoz Paolo , Fugazzola Laura

Mutations in SLC26A4 cause Pendred syndrome (PS) and a non syndromic deafness associated with the enlargement of the vestibular aqueduct (LVAS). In many patients with a PS/LVAS phenotype, mutation screening of SLC26A4 fails to identify two disease-causing allele variants, suggesting that other genetic factors could be involved. Indeed, mutations in the SLC26A4 promoter (FBS1), in FOXI1, a transcriptional activator of SLC26A4, and in a K+ channel gene (KCNJ10) have been very re...

ea0020p180 | Endocrine tumours and neoplasia | ECE2009

Papillary thyroid carcinoma associated with thyroid autoimmunity: clinical and molecular characterization

Muzza Marina , Colombo Carla , Perrino Michela , Rossi Stefania , Cirello Valentina , Beck-Peccoz Paolo , Fugazzola Laura

It is still debated if the coexistence of papillary thyroid cancer (PTC) with a thyroid autoimmune process is associated with a better or worst outcome. Moreover, though a direct relationship between oncogenes and the activation of a pro-inflammatory program has been documented, the genetic background of PTCs with associated autoimmunity is not known.Aim of the present study was to to investigate the clinical and molecular features of PTCs associated or ...

ea0049ep1432 | Thyroid (non-cancer) | ECE2017

Expression analyses of HABP2 in neoplastic and normal thyroid tissues: could this gene play a role in the pathogenesis of familial non medullary thyroid cancer?

Muzza Marina , Colombo Carla , Proverbio Maria Carla , Ercoli Giulia , Perrino Michela , Cirello Valentina , Vicentini Leonardo , Ferrero Stefano , Fugazzola Laura

Recently, the G534E variant of the HABP2 gene was reported as the underlying genetic defect in large kindred with non-syndromic familial non medullary thyroid cancer (FNMTC), but these data were not confirmed in additional cohorts. Consistently, we found in our wide series of FNMTC that the HABP2G534E variant is frequent, but does not segregate with the disease. Nevertheless, a possible role for this gene in the pathogenesis of FNMTC cannot definitely ruled out also because co...

ea0016oc2.5 | Thyroid | ECE2008

Fetal cell microchimerism in papillary thyroid cancer: a possible role in tumor damage and tissue repair

Cirello Valentina , Recalcati Maria Paola , Muzza Marina , Rossi Stefania , Perrino Michela , Beck-Peccoz Paolo , Finelli Palma , Fugazzola Laura

Fetal cells enter the maternal circulation during pregnancy and can persist in the maternal blood or tissues for decades, creating a physiological microchimerism. Since papillary thyroid cancer (PTC) is more frequent in female gender and it is the second more frequent tumor during pregnancy, the role of persisting microchimeric cells has been investigated. Tumour tissue specimens were obtained from 62 women with PTC, 41 of whom had at least one male child before the diagnosis ...

ea0014p109 | (1) | ECE2007

Histopathological and molecular studies in patients with goiter and hypercalcitoninemia: reactive or neoplastic C-cell hyperplasia?

Verga Uberta , Ferrero Stefano , Vicentini Leonardo , Brambilla Tatiana , Cirello Valentina , Muzza Marina , Beck-Peccoz Paolo , Fugazzola Laura

The cut-off values able to differentiate between reactive or neoplastic C cell hyperplasia (CCH) or to predict sporadic medullary thyroid cancer (MTC) are still debated both for basal and stimulated calcitonin (bCT and sCT). Aim of the present study was to define the prevalence and the histological patterns of CCH in 15 patients with multinodular goiter (MNG), bCT>10 pg/ml and sCT levels >50 pg/ml. These data were compared with those from 16 patients with MNG and bCT l...

ea0041oc14.1 | Thyroid Cancer | ECE2016

Tumor and normal thyroid stem-like cells: from tissues to zebrafish

Cirello Valentina , Vaira Valentina , Gaudenzi Germano , Stellaria Grassi Elisa , Vitale Giovanni , Ricca Dario , Bosari Silvano , Vicentini Leonardo , Persani Luca , Ferrero Stefano , Fugazzola Laura

Introduction: Cells with stem-like properties have been reported in benign and malignant thyroid diseases, and can be propagated by culturing them as non-adherent spheres.Design: Aim of the present study was to widely characterize the stem-like cells in tumor and normal thyroid tissues and in the corresponding in vitro-cultured thyrospheres, and to investigate in vivo the proangiogenic potential of thyrospheres in a zebrafish model....

ea0037gp.24.02 | Thyroid–genetics | ECE2015

In papillary thyroid cancer TERT promoter mutations have a worst impact on outcome than BRAF mutations

Muzza Marina , Colombo Carla , Proverbio Maria Carla , Rossi Stefania , Tosi Delfina , Perrino Michela , De Leo Simone , Cirello Valentina , Bulfamante Gaetano , Vicentini Leonardo , Fugazzola Laura

TERT promoter mutations (chr5: 1 295 228C>T e chr5: 1 295 250C>T) were recently described in thyroid tumors, with a prevalence ranging 8–25% in papillary thyroid cancer (PTC). We and others reported that these mutations strongly associate with a poor outcome in differentiated thyroid cancers. Aim of the present study was to further investigate the prognostic role of both TERT promoter (TERTMUT) and BRAF<...

ea0037ep858 | Thyroid cancer | ECE2015

The evaluation of sex hormone receptors in papillary thyroid cancer as an additional tool in the post-operative risk stratification and in the pre-gravidic counselling of women with persistent disease

Fugazzola Laura , De Leo Simone , Perrino Michela , Rossi Stefania , Tosi Delfina , Cirello Valentina , Colombo Carla , Bulfamante Gaetano , Vicentini Leonardo , Vannucchi Guia

Thyroid cancer is highly prevalent in women aged 15–44 years, suggesting that in females the fertile age could be regarded as a risk factor. Consistently, in the last decades epidemiological and experimental findings indicated a possible role of oestrogens in the development and progression of differentiated thyroid tumours. We studied the expression of oestrogen receptor α (ER α) and Progesteron receptor (PR) in 182 female and male patients with papillary thyro...