Endocrine Abstracts

Introduction: The association between thyroid cancer and thyrotoxicosis is rare and, in particular, autonomous hyperfunctioning metastasis of differentiated thyroid cancer (TC) are seldom described, with a prevalence of 0.71%. Althought most hyperfunctioning metastasis are derived from follicular thyroid cancer (FTC), metastasis from papillary thyroid cancer (PTC) have been also reported. Bone metastasis account for the majority of cases. Hyperfunctioning TC metastasis have be...

Introduction: Despite its neuroendocrine origin, only recently an international study group proposed a dedicated grading system (IMTCGS) for medullary thyroid carcinoma (MTC). IMTCGS is an independent and powerful tool able to predict disease specific survival (DSS) as well as distant metastasis-free (DMFS) and locoregional recurrence-free survivals (LRFS), regardless of other risk factors, including staging.Objectives: To evaluate the performance of IMT...

Background: Distant metastases at diagnosis is the worst prognostic factor for disease specific survival (DSS) in sporadic medullary thyroid carcinoma (MTC). Also, lymph node metastases are negative prognostic factors both for DSS and recurrence free survival (RFS). The question whether central (N1a) and latero-cervical compartment lymph nodes metastasis (N1b), separately evaluated, can have a different impact on DSS and RFS remains to be clarified.Patie...

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...

Introduction: The majority of patients with radioiodine-refractory thyroid carcinoma (RAIR-TC) have an indolent disease and require active surveillance (AS) only, while those with progression of the disease (PD) may benefit from local treatment (LT) or systemic therapy with tyrosine-kinase inhibitors (TKI). In the literature, no data about the real impact of LTs in avoiding/delaying systemic treatment in RAIR-TC patients are present.Objective: This study...

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...

Background: The last American Thyroid Association guidelines (ATA-2015) defined the risk of structural recurrence in patients with DTC cured after initial treatment and according to the initial histology. However, these data resulted from several studies including different patients with different kinds of treatment. We retrospectively evaluated a large population of patients with DTC, treated and followed in a tertiary referral center, with the aim to characterize the rate of...

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...

Background: PET/CT scan with 18F-fluoro-dihydroxyphenylalanine (18F–DOPA) is an emerging useful tool in medullary thyroid cancer (MTC) patients with high calcitonin (CTN) values. The aim of this study is to evaluate the potential usefulness of 18F-DOPA-PET/CT in MTC patients with biochemical incomplete response (BiR) (detectable CTN values and negative/indeterminate findings at CT scan with i.v. contrast).Materials a...

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...