Searchable abstracts of presentations at key conferences in endocrinology

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...

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...

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...

ea0014p345 | (1) | ECE2007

Characterization of facilitative glucose transporters (GLUT) in human thyroid carcinoma cell lines

Ciampi Raffaele , Vivaldi Agnese , Piampiani Pamela , Agate Laura , Salvadori Piero , Del Guerra Alberto , Pinchera Aldo , Elisei Rossella

18FDG-PET is based on the capability of tumor cells to take up glucose. An increment in expression of the glucose transporter 1 (GLUT1) has been observed in thyroid tumors with poor prognosis but very few data are available about the expression of other glucose transporters in thyroid. Here, we study the expression and function of GLUT isoforms 1, 2, 3, 4, 6, 8, 10, 12 in human thyroid carcinoma cell lines ARO and FRO (anaplastic carcinoma), NPA (poorly-differentiated papillar...

ea0014p363 | (1) | ECE2007

Partial redifferentiation of thyroid carcinoma cell lines treated with decitabine and retinoic acid

Vivaldi Agnese , Fabiola Miasaki , Ciampi Raffaele , Agate Laura , Bottici Valeria , Capodanno Alessandra , Collecchi Paola , Pinchera Aldo , Elisei Rossella

In a previous study we demonstrated that retinoic acid (RA) decreased the growth only of thyroid carcinoma cell lines expressing RA receptor β (RAR β) and that decitabine (5-Aza-CdR) re-induced RARβ expression. The aim of this study was to analyze the effects induced by the combined treatment with RA and 5-Aza-CdR in the same thyroid cancer cell lines.We studied the effect of 5-Aza-CdR 800 nM and RA 1 μM on the expression of thyroid s...

ea0092op-12-03 | Oral Session 12: Emerging Insights into Thyroid Cancer Genetics | ETA2023

Different histological variants in multifocal PTC analyzed by NGS show an independent molecular origin

Ramone Teresa , Ciampi Raffaele , Romei Cristina , Casalini Roberta , Almeida Jacqueline , Minaldi Elisa , Ugolini Clara , Signorini Francesca , Basolo Fulvio , Elisei Rossella

Objective: Currently, data about the molecular profile of multifocal papillary thyroid cancer (PTC) are still controversial. The aim of this study was to fully characterize by NGS the molecular profile of different histological variants in patients affected by multifocal PTCs.Methods: for this purpose, 12 multifocal PTC patients have been studied based to the following inclusion criteria: 1) a minimum of two tumors foci per patient with at least two diff...

ea0014oc1.2 | Thyroid clinical | ECE2007

Expression gene profile may be useful for the diagnosis of thyroid malignancies

Piampiani Pamela , Romei Cristina , Cosci Barbara , Vivaldi Agnese , Ciampi Raffaele , Viola David , Bottici Valeria , Giannini Riccardo , Basolo Fulvio , Pinchera Aldo , Elisei Rossella

Although 20% of follicular neoplasms are papillary thyroid carcinoma (PTC), their cytological diagnosis is not diagnostic. A different profile of gene expression between malignant and benign thyroid tumors has been reported. Aim of this study was to identify a gene expression profile to be used in distinguishing malignant from benign thyroid neoplasms. By real-time RT-PCR we analyzed mRNA expression of 6 thyroid differentiation genes (TTF-1, PAX8, TPO, TSHr, NIS and Tg) and 5 ...

ea0014p366 | (1) | ECE2007

Prognostic significance of BRAF mutation in patients affected by papillary thyroid carcinoma with a follow up of 20 years

Viola David , Romei Cristina , Biagini Agnese , Agate Laura , Molinaro Eleonora , Ciampi Raffaele , Renzini Giulia , Giannini Riccardo , Ugolini Clara , Berti Piero , Pinchera Aldo , Elisei Rossella

BRAFV600E is the most common mutation in papillary thyroid carcinoma (PTC). Anatomo-patology and clinical features of PTC with BRAFV600E are well described in literature.Aim of this study was to examine the prognostic significance of BRAFV600E in patients with PTC and a follow-up of 15-20 years.Genomic DNA was purified from 67 paraffin-embedded tumoral tissue. A PCR-SSCP analysis of exon 15 of BRAF ...

ea0092ps3-28-03 | Translational 2 | ETA2023

Molecular analysis of multiple foci of sporadic medullary thyroid carcinoma suggests that they are intrathyroidal metastases from the same primary tumor

Almeida Jacqueline , Ciampi Raffaele , Casalini Roberta , Ramone Teresa , Mori Sara , Cappagli Virginia , Materazzi Gabriele , Ugolini Clara , Basolo Fulvio , Ward Laura , Elisei Rossella , Romei Cristina

Sporadic medullary thyroid cancer (sMTC) presents mutations of the RET proto-oncogene in about 50% of the cases and of the RAS proto-oncogene in about 20% of the cases. In about 15% of cases, sMTC is multifocal and it is not known whether multiple foci can be considered as intrathyroidal metastases of the main tumor focus or if they can be considered as independent tumors. To clarify this issue, we examined the mutation profile of multiple intrathyroidal tumo...