Searchable abstracts of presentations at key conferences in endocrinology

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 ...

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...

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 ...

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...

ea0014oc1.3 | Thyroid clinical | ECE2007

Persistence of decreased peripheral B-lymphocytes after Rituximab treatment is associated to inactive disease in patients with thyroid-associated ophthalmopathy

Campi Irene , Vannucchi Guia , Covelli Danila , Bonara Paola , Currò Nicola , Dazzi Davide , Pirola Giacinta , Rossi Stefania , Guastella Claudio , Beck-Peccoz Paolo , Salvi Mario

The anti-CD20 antibody Rituximab (RTX) induces peripheral B cells depletion. Aim of the present study was to evaluate changes of lymphocytes after RTX therapy, administered at the dosage of 1000 mg twice at 2-week interval, in 10 patients with Graves’ disease, 8 of whom had associated ophthalmopathy (TAO). In all patients, we studied the standard immunophenotypic panel before therapy and monthly for up to 2 years. Total CD20+ (and CD19+) cell depletion was observed after ...

ea0014p310 | (1) | ECE2007

Intraorbital tissues effects of rituximab (RTX) treatment in patients with thyroid-associated ophthalmopathy (TAO)

Vannucchi Guia , Campi Irene , Rossi Stefania , Bonara Paola , Guastella Claudio , Currò Nicola , Simonetta Simona , Sina Clara , Ratiglia Roberto , Beck-Peccoz Paolo , Salvi Mario

We previously described a significant response to RTX treatment in patients with active TAO, with no effect on TRAb and hyperthyroidism. In order to study the effect of RTX in the orbit, we analyzed the orbital tissues of 9 patients with TAO at decompression after RTX (n.2) or other treatments. Decompression was carried out in 2 patients for sight threatening optic neuropathy and in 7 for correction of proptosis. Of the RTX treated patients, one was decompressed after 12 month...

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...

ea0035p1126 | Thyroid Cancer | ECE2014

TERT promoter mutations correlate with a more advanced stage at diagnosis and with a poorer prognosis in differentiated thyroid cancer

Colombo Carla , Muzza Marina , Rossi Stefania , Cirello Valentina , Perrino Michela , Tosi Delfina , Vigo Beatrice , Leo Simone De , Bulfamante Gaetano , Magnani Elisa , Pignatti Elisa , Simoni Manuela , Vicentini Leonardo , Fugazzola Laura

Telomerase is a ribonucleoprotein polymerase that maintains telomere ends and plays a role in cellular senescence, being repressed in postnatal somatic cells. Mutations C228T and C250T of the telomerase reverse transcriptase (TERT) were recently reported in human cancers. In thyroid cancer, TERT mutations are more frequent in aggressive histotypes, but very few data are available about the potential correlations with clinical features in papillary and follicular thyroid cancer...