Searchable abstracts of presentations at key conferences in endocrinology

ea0016p130 | Clinical cases | ECE2008

A fetus affected with a complete androgen insensitivity syndrome due to a novel mutation of AR and persistent Mullerian structures

Vainicher Cristina Eller , Muzza Marina , Gaetti Luigi , Fugazzola Laura , Bulfamante Gaetano , Spada Anna Maria

Complete androgen insensitivity syndrome (CAIS) is a rare X-linked disorder caused by androgen receptor gene (AR) mutations that result in complete impairment of genital virilisation. Usually CAIS patients, who have normal production of AMH by Sertoli Cells, do not show Mullerian derivatives, although the persistence of Mullerian duct derivatives up to now have been described in nine cases.Here, we report the case of a fetus aborted at 20 weeks for genit...

ea0022oc1.5 | Diabetes and obesity | ECE2010

Role of PKA regulatory subunit R2B in murine and human adipocyte differentiation

Ermetici Federica , Peverelli Erika , Mantovani Giovanna , Corbetta Sabrina , Avagliano Laura , Bulfamante Gaetano , Beck-Peccoz Paolo , Spada Anna

PKA regulatory subunit 2B (R2B) is the most expressed in mouse adipose tissue, where it plays an important role in regulating energy balance. We previously demonstrated that R2B is the most abundant R subunit in human adult subcutaneous and visceral adipose tissues. We further showed that R2B expression and PKA activation are reduced in adipose tissues from obese as compared to non-obese subjects. Normal adipose tissue development and increases in fat mass associated with obes...

ea0022p263 | Developmental endocrinology | ECE2010

Gonadal structures in a fetus with complete androgen insensitivity syndrome and persistent Mullerian derivatives: comparison with the normal fetal development

Corbetta Sabrina , Marina Muzza , Laura Avagliano , Gaetano Bulfamante , Luigi Gaetti , Cristina Eller-Vainicher , Paolo Beck-Peccoz , Anna Spada

Androgens, by signaling through the androgen receptor (AR), mediate a wide range of male developmental processes. Complete androgen insensitivity syndrome (CAIS), a X-linked disorder caused by AR gene mutations, represents an in vivo model to study the role of androgens in sexual development. Here, we reported a case with CAIS at 20 weeks of gestational age harbouring a novel AR missense mutation (D767V), which was predicted to prevent androgen binding and...

ea0041gp115 | Endocrine Tumours | ECE2016

Loss of cells expressing the T-box transcription factor TBX1 might be associated with a quiescent phenotype in parathyroid tumours

Verdelli Chiara , Avagliano Laura , Ferrero Stefano , Guarnieri Vito , Cetani Filomena , Vicentini Leonardo , Beretta Edoardo , Scillitani Alfredo , Bulfamante Gaetano , Vaira Valentina , Corbetta Sabrina

Embryonic transcription factors have been involved in tumourigenesis. The transcription factor TBX1 regulates the embryonic parathyroid cells fate. Indeed, it has never been investigated in human adult parathyroids. Here, expression, function and regulation of the TBX1 gene were analyzed in adult normal and tumour parathyroid tissues. Immunohistochemistry identified 30–70% (mean±S.E.M, 52.0±7.3%) of cells expressing TBX1 at nuclear levels...

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...

ea0032p525 | Endocrine tumours and neoplasia | ECE2013

Function and origin of tumour-associated fibroblasts (TAFs) in human parathyroid neoplasia

Verdelli Chiara , Avagliano Laura , Guarnieri Vito , Scillitani Alfredo , Passini Elena , Vicentini Leonardo , Steffano Giovan Battista , Spada Anna , Bulfamante Gaetano , Corbetta Sabrina

Tumour-associated fibroblasts (TAFs) are important players in tumour formation, growth, enhancement and metastasis. We firstly investigated the TAFs component in human parathyroid neoplasia from patients with primary hyperparathyroidism. Alpha-smooth muscle actin (alpha-SMA) has been used to identify activated TAFs (myofibroblasts). Culturing explants from parathyroid adenomas (PA, n=5), large spindle-shaped alpha-SMA+ cells outgrew from explants and the expression of...

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...