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...

Introduction: The surgical approach is the first line treatment for patients with an indeterminate nodule, both without and with nuclear atypia (TIR3A and TIR3B, respectively, as defined by Italian Consensus for thyroid cytology). However, there are no prospective studies about the feasibility of active surveillance in patients with indeterminate thyroid nodules.Methods: Eighty-six consecutive patients who decided to undergo active surveillance for at le...

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...

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...

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...