Searchable abstracts of presentations at key conferences in endocrinology

ea0063gp263 | Thyroid Nodules and Cancer 2 | ECE2019

Predictive factors of short and long-term vandetanib response in locally advanced or metastatic medullary thyroid cancer: a single center experience

Valerio Laura , Bottici Valeria , Matrone Antonio , Tacito Alessia , Romei Cristina , Piaggi Paolo , Elisei Rossella

Objectives: Vandetanib (V) is an important drug in the metastatic medullary thyroid cancer (MTC) treatment. The objective of this study was to evaluate the presence of predictors of V response, in short and long period, in locally advanced or metastatic MTC patients (pts).Methods: Seventy-nine locally advanced or metastatic MTC pts with progressive or symptomatic disease, referred to our Center between 2007 and 2018 and already treated surgically and wit...

ea0020oc1.1 | Endocrine Tumours | ECE2009

Optimizing time of prophylactic surgery in ret gene carriers on the basis of serum calcitonin

Elisei Rossella , Romei Cristina , Bottici Valeria , Cosci Barbara , Renzini Guilia , Molinaro Eleonora , Agate Laura , Pinchera Aldo

Multiple endocrine neoplasia type 2 (MEN 2) is characterized by the presence of medullary thyroid cancer (MTC) and other benign pathologies. RET mutations are responsible of this disease and their screening is a very sensitive tool for the identification of gene carriers (GC).Aim of this study was to verify the relevance of the basal and pentagastrin (Pg) stimulated serum calcitonin (CT) in the decision to perform TT in GC. We reviewed data of 65 GC foun...

ea0084op-09-43 | Oral Session 9: Thyroid Cancer Clinical | ETA2022

Novel somatic mutations in sporadic MTC (spMTC); clinical utility of NGS in precision medicine

Simeakis George , Romei Cristina , Ciampi Raffaele , Ramone Teresa , Saltiki Katerina , Elisei Rossella , Alevizaki Maria

Objectives: Distant metastases in MTC adversely affect disease prognosis. Somatic mutations in spMTC as well as Variant Allele Frequency (VAF) have been related to tumor burden, disease course and the response to TKIs. The aim of this study is to report three cases of nucleotide (nt) insertions/deletions (indels) in the RET oncogene in relation to disease course/response to TKIs.Methods: Of 195 spMTC patients followed-up in Dept. Clinical Therap...

ea0084ps3-14-126 | Thyroid Cancer CLINICAL 2 | ETA2022

The prognostic role of chromosomal gains and loss in sporadic medullary thyroid carcinoma

Ramone Teresa , Ciampi Raffaele , Casalini Roberta , Valetto Angelo , Bertini Veronica , Piaggi Paolo , Elisei Rossella , Romei Cristina

Background: Human cancer is characterized by the accumulation of somatic alterations including base substitutions, indels, structural rearrangements and somatic copy number alteration (CNA), either gain or loss, of chromosomes that can be responsible either for initiation and/or cancer progression. About 80% of Sporadic Medullary Thyroid Carcinoma (sMTC) harbor RET or RAS somatic alterations with a negative prognostic role for the presence of the RET mutation; a few s...

ea0063gp84 | Thyroid Nodules and Cancer | ECE2019

Polygenic susceptibility to papillary thyroid cancer: detection of the main genetic signature in Italian patients

Brigante Giulia , Lazzaretti Clara , Paradiso Elia , Foersti Asta , Hemminki Kari , Elisei Rossella , Romei Cristina , Simoni Manuela , Landi Stefano , Casarini Livio

Introduction and aim: Thyroid cancer is the most common endocrine neoplasia affecting 0.2–1.5% of the individuals worldwide and its incidence is increasing [1]. Papillary thyroid carcinoma (PTC) is the main histotype (80–90%). PTC susceptibility is the result of genetic predisposition, environmental factors and lifestyle. We hypothesized that genetic predisposition to PTC is poligenic and characterized by a genetic signature involving combinations of genes previously...

ea0040p1 | (1) | ESEBEC2016

Genetic heterogeneity of medullary thyroid carcinoma

Romei Cristina , Ciampi Raffaele , Tacito Alessia , Casella Francesca , Ugolini Clara , Porta Mireira , Torregrossa Liborio , Basolo Fulvio , Elisei Rossella

Genetic intratumor heterogeneity has been recently demonstrated in some solid human cancers and a few years ago RET mutated and not mutated cells were described in medullary thyroid carcinoma (MTC). Nobody reported the presence of two different RET mutations.Aim of our study was to investigate the RET somatic mutation profile in primary MTC (pMTC) and in the corresponding metastatic tissues (mets).We studied pMTC and mets of 22 MTC...

ea0014oc5.4 | Thyroid basic | ECE2007

BRAFV600E mutations but not RET/PTC rearrangements are correlated with a lower expression of NIS mRNA expression in papillary thyroid cancer (PTC)

Romei Cristina , Piampiani Pamela , Faviana Pinuccia , Basolo Fulvio , Bottici Valeria , Sculli Mariangela , Berti Piero , Materazzi Gabriele , Pinchera Aldo , Elisei Rossella

Several studies have identified a relationship between oncogene activation and dedifferentiation of PTC. Mutations of RAS, RET/PTC and BRAF modulate the expression of thyroid genes. An impaired NIS expression has been demonstrated in PTCs harboring the BRAFV600E mutation.Aim of this study was to analyze BRAF and RET/PTC1-3 alterations and their influence on the expression of thyroid differentiation genes. Seventy-one PTC samples were studied. Quantitative analysis o...

ea0014p362 | (1) | ECE2007

Prognostic value of polymorphisms and somatic RET proto-oncogene mutations in sporadic medullary thyroid carcinoma (MTC)

Cosci Barbara , Romei Cristina , Piampiani Pamela , Sculli Mariangela , Miccoli Paolo , Ugolini Clara , Minuto Michele , Pinchera Aldo , Elisei Rossella

Germline point mutations of the RET proto-oncogene are causative of hereditary MTC. Somatic mutations are described in 40% of sporadic MTCs. Although a relationship between somatic mutations and bad prognosis has been described, data are controversial.No date on the prognostic value of RET polymorphisms are available.Aim of the work was to verify if the presence of a somatic RET mutation and or a polymorphisms can influence the prognosis of MTC. This stu...

ea0084op-09-45 | Oral Session 9: Thyroid Cancer Clinical | ETA2022

The phenotype correlated with RET V804 germline mutation is characterized by the presence of medullary thyroid cancer alone

Romei Cristina , Ramone Teresa , Casalini Roberta , Ciampi Raffaele , Matrone Antonio , Cappagli Virginia , Bottici Valeria , Molinaro Eleonora , Elisei Rossella

Background: Genotype-phenotype correlations between various RET mutations and clinical manifestations of MEN 2 syndrome are well established. A discussion is still open if the FMTC phenotype really exists or if it is just a MEN2A variant. Aim of this study was to verify if the phenotype corresponding to the V804M germline mutation is restricted to FMTC.Methods: During the last 25 years, we have identified 200 families with a hereditary form of M...

ea0084ps3-15-140 | Thyroid Cancer Diagnosis & Treatment | ETA2022

Basal calcitonin as guide for an early and safe thyroid surgery in RET gene carriers

Prete Alessandro , Gambale Carla , Bottici Valeria , Cappagli Virginia , Matrone Antonio , Materazzi Gabriele , Basolo Fulvio , Romei Cristina , Elisei Rossella

Introduction: Virtually all familial cases of Medullary Thyroid Carcinoma (MTC) have a RET germline mutation. Subjects harboring RET germline mutation without unaware of their condition are defined gene carriers (GC). Thyroid surgery timing is decided upon RET mutation and calcitonin levels (both basal, bCT, and stimulated, sCT). However, bCT and sCT thresholds for planning thyroid surgery have not been established, yet.Methods...