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...

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...

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...

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...

Introduction: RET gene is responsible for various human cancers and is mutated and hyperactivated in nearly 100% of familial (germline mutation) and in about 60% of sporadic (somatic mutation) MTC cases. Moreover, RET gene play a role in several physiologic and pathologic conditions. Very recently, the hyperfunction of RET was found to be a key process in weight loss. The hypothesis is that in a peculiar population in which RET gene is mutated and constitutively activated from...

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...

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...

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...

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...