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 ...

ea0084ps2-08-68 | Thyroid Cancer BASIC | ETA2022

NOX-derived oxidative stress is high in neoplastic thyroid lesions and correlates with ata risk in papillary thyroid cancer

Pogliaghi Gabriele , Muzza Marina , Colombo Carla , Persani Luca , Fugazzola Laura

Oxidative stress (OS) can have an impact both in the pathogenesis and in the progression of TC, as it has been shown to induce oncogenes and inhibit tumor suppressors. The main source of cellular ROS is represented by NADPH oxidases (NOXs). Aims of the study were to investigate the NOX-derived OS in TC samples, benign nodules and corresponding normal tissues, and to correlate the level of OS with histological classification, genetic profile and clinical and prognostic features...

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 ...

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...

ea0081p217 | Thyroid | ECE2022

A combining pre-surgical thyroid risk score (TRS) for nodules with indeterminate cytology

Colombo Carla , Vannucchi Guia , Muzza Marina , Pogliaghi Gabriele , Palazzo Sonia , Dionigi Gianlorenzo , Persani Luca , Gazzano Giacomo , Fugazzola Laura

Background: Cytology is the gold standard method for the differential diagnosis of thyroid nodules, though 25−30% of them are classified as indeterminate and, in some cases, surgery is required for a definitive diagnosis. Aim: In order to reduce unnecessary thyroid surgeries, we set up a ‘thyroid risk score’ (TRS) to increase the diagnostic accuracy in a large series of patients with indeterminate cytology and to apply it to a validation ...

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...

ea0044oc3.1 | Thyroid and Neoplasia | SFEBES2016

Frequent Occurrence of DUOX2 and DUOXA2 Mutations in Cases with Borderline Bloodspot Screening TSH who Develop ‘True’ Congenital Hypothyroidism

Peters Catherine , Nicholas Adeline K , Lyons Greta , Langham Shirley , Serra Eva , Schoenmakers Erik , Muzza Marina , Fugazzola Laura , Schoenmakers Nadia

The UK newborn screening programme for congenital hypothyroidism (CH) facilitates prevention of neurodevelopmental delay in CH by enabling prompt diagnosis and treatment. Although the UK Newborn Screening Programme Centre (UKNSPC) defines a borderline bloodspot screening TSH (bsTSH) concentration as 10–20 mU/l, the lower cutoff used at Great Ormond Street Hospital (6 mU/l), enables diagnosis of true and transient CH in cases missed using UKNSPC criteria. We hypothesised t...

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...