Endocrine Abstracts

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: Total thyroidectomy (TT) plus central neck compartment (CC) lymphnode dissection is still the recommended initial gold standard treatment for medullary thyroid cancer (MTC), even in the absence of a pre-surgical positive neck US evidence of lymphnode metastases. Considering the risk of surgical complications of this prophylactic surgery and the low rate of histologic finding of CC lymphnode metastases, a more tailored lymphnode’ surgery should be proposed. A...

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...

Background: CCH and serum hypercalcitoninemia (iperCT) can be found in benign thyroid diseases such as thyroiditis and in some cases of papillary (PTC) or follicular (FTC) thyroid microcarcinomas. The question of whether the association with these latter is related to the malignancy of the nodule is still unclear.Aim of the study: To evaluate the difference in the CCH prevalence, at histology, in a series of benign (BTN) and malignant (PTC/FTC) thyroid n...

The reported prevalence of RET somatic mutations in sporadic MTC is about 40–50% and the most frequent somatic mutation is Met918Thr in exon 16. MTC harboring a somatic RET mutation have been demonstrated to have a more advanced stage at diagnosis and a worse outcome. Although RET mutations are believed to be driving events in the MTC tumorigenesis only the finding of somatic mutations in microMTC can confirm this hypothesis.Aim of the present work ...

Lenvatinib is a tyrosine kinase inhibitor (TKI), approved for the management of locally recurrent or metastatic, progressive, radioactive iodine–refractory differentiated thyroid cancer (DTC). A side effect of this drug is the tracheoesophageal fistula, described in 14.7% of patients. When this side effect is present, the interruption/withdrawn of the TKI is required and in this case no valid therapeutic options are described. We present the case of a 63-year-old woman pa...

Introduction: Medullary thyroid carcinoma (MTC) is a rare neoplasm that occurs sporadically in 75% (sMTC) and hereditarily in 25% (fMTC) of cases caused by germinal mutations of the RET gene as an autosomal dominant trait. fMTC occurs in the setting of three syndromes: fMTC alone without any other clinical manifestations; and multiple endocrine neoplasia type 2A (MEN2A) and 2B (MEN2B) syndromes. In fMTC, cases are distinguished into index cases (1st clinically detecte...