Searchable abstracts of presentations at key conferences in endocrinology

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...

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<...

ea0056gp233 | Thyroid Cancer - Diagnostics &amp; Treatments | ECE2018

Molecular profiling of a large papillary thyroid cancer series followed at a single center: data on mutation density, heterogeneity and phenotype-genotype correlations

Colombo Carla , Muzza Marina , Proverbio Maria Carla , Tosi Delfina , Pesenti Chiara , Rossi Stefania , Cirello Valentina , De Leo Simone , Bulfamante Gaetano , Ferrero Stefano , Tabano Silvia , Fugazzola Laura

Recent advances in the molecular classification of papillary thyroid cancer (PTC) have improved the diagnostic work-up and the care of patients with thyroid nodules and cancer, highlighting the need to routinely add information on the genetic pattern to the classification of cancer. The genomic background of a large series of 208 PTCs followed at a single Center was analysed by a custom MA genotyping platform (PTC-MA), which allows the simultaneous detection of 19 genetic alte...