Endocrine Abstracts

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...

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...

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...

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...

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...

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...

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...

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 ...

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 ...

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...