Endocrine Abstracts

Introduction: MEN 2A is a rare hereditary cancer syndrome, which is inherited, as variety of autosomal dominant germline variants in the RET proto-oncogene.Case report: We report a 29-year-old female with a past medical history of aggressive medullary thyroid carcinoma, with a high level of calcitonin, which occurred in the 2nd decade of her life. Total thyroidectomy was conducted in 2016, followed by the surgical extraction of a retroperitoneal paragang...

Introduction: The worldwide incidence of thyroid cancer has shown a steady incline over the past 35 years. While differentiated thyroid cancers are mostly responsible for this increase, population-based studies also show elevated medullary thyroid cancer (MTC) incidence rates. MTC is a rare, C-cell derived thyroid cancer, with a variable disease course that challenges treatment and follow-up. To enable adequate care of this rare cancer, international guidelines and centralizat...

Introduction: Medullary thyroid carcinoma (MTC) accounts for up to 10% of thyroid cancers. Many of these patients present a syndromic phenotype, with multiple endocrine neoplasias, termed multiple endocrine neoplasia type 2 (MEN2), a genetic condition characterized by mutations in the RET gene. Despite many advances in the molecular biology of this disease, little is known about the immunopathology of the MTC tumor microenvironment.Objective: The overall...

Introduction: Medullary thyroid carcinoma may be associated with Multiple Endocrine Neoplasia type 2 (MEN2), resulting from germline mutations in the RET proto-oncogene.Objective: We aimed to describe the molecular epidemiology of the pathogenic variants V804M and V804L of the RET gene through genetic population structure analysis.Materials and Methods: We investigated molecular data from patients with MEN2A caused by RET mutation ...

Objectives: Multicentric and bilateral tumour foci, usually associated to C cells hyperplasia, are typical of familial medullary thyroid cancer (MTC). On the other hand, sporadic forms are often monocentric. Thus, the question arises if total thyroidectomy is the best option for sporadic MTC, as currently suggested by International guidelines. In this context, a growing body of evidence, mostly coming from Asia, seems to support the possibility of a more conservative surgery. ...

Objectives: The aim of the present work was to verify if C-Cell hyperplasia (CCH) could be considered as a preneoplastic lesion of sporadic MTC and if CCH shares the same mutation profile of the main tumorMethods: Forty-seven out of our whole series of 326 sMTC cases (14.4%) whose mutation profile was previously characterized by NGS were found to have CCH at histology. CCH formalin-fixed paraffin-embedded (FFPE) tissues were available in 20/47 selected c...

Background: Total thyroidectomy and cervical lymph node resection is the standard treatment for MTC, as the cancer often occurs in both thyroid lobes and the incidence of lymph node metastasis reaches 80%, especially in patients with palpable tumor. However, previous analyses have included both hereditary and sporadic MTCs. In the ultrasound era, patients are referred for surgery earlier, often with not palpable MTCs, and the result of the germline RET oncogene mutation analys...

Introduction: Collision tumors in the thyroid gland are uncommon entities constituting <1% of all thyroid tumors. These are defined as two distinct histological types of tumors arising concurrently within the thyroid, with the combination of Medullary Thyroid Cancer (MCT) and Papillary Thyroid Cancer (PTC) being the most common occurrence. PTC and MTC differ in management strategies and clinical courses, highlighting the importance of accurate diagnosis.<p class="abste...

Medullary thyroid carcinoma (MTC) is a rare neuroendocrine tumor occurring either sporadically or in a hereditary form that can be cured by complete resection of the tumor and any locoregional metastases, but appropriate treatment remains less clear in patients with residual or recurrent disease. Herein we report the case of a 51-year-old man that was diagnosed with bifocal right-sided medullary thyroid cancer in October 2021 after a fine needle aspiration suggestive of an MTC...

Introduction: Medullary thyroid carcinoma (MTC) is a neuroendocrine tumor derived from the calcitonin-producing parafollicular C-cells. Calcitonin is the most important tumor marker for MTC both in the diagnostic and follow-up phase. The 2015 ATA guidelines recommend performing additional imaging preoperatively when calcitonin exceeds 500 pg/mL to detect distant metastases. However, this recommendation is based on a single study. Whether this is the optimal cutoff, including o...