Endocrine Abstracts

Objectives: Molecular diagnostic tests for indeterminate thyroid nodules (ITNs) are marketed based on negative predictive value (NPV) and benign call rate. Arguments that unnecessary surgeries are avoided based on NPV/BCR incorrectly assume that all ITNs would undergo diagnostic surgery in the absence of molecular testing. In our practice with centralized triage and cytopathology the resection and malignancy rate, respectively, were 21% and 26% for AUS/FLUS and 56% and 43% for...

Objectives: Somatic copy number alterations (SCNAs) have been the most common genetic alterations identified in cancer, that frequently related with extensive genomic instability and to an aggressive behavior. Hürthle cell carcinoma is known to be aggressive, having the highest incidence of recurrences, distant metastasis and RAI therapy resistance among all differentiated follicular cell derived thyroid carcinomas. Due to these differences and recent molecular discoverie...

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...

Introduction: By Next Generation Sequencing (NGS) our team identified in two families presenting a phenotype compatible with familial non-medullary thyroid carcinoma (Family C and Family R), two new potentially pathogenic germline mutations. Family C presented p.Gly106Arg mutation in the KCNB2 gene, that codifies a voltage-gated potassium channel (vgKCN). Since potassium efflux by the cell is a necessary condition for cellular homeostasis, vgKCN disruption can impact the funct...

Objectives: Effective patient management is about finding a balance between overtreatment and undertreatment. Finding the border is very difficult due to the hardly predictable development of carcinoma. Molecular markers and their testing could help distinguish between low-grade and high- grade carcinomas. One of these molecular markers is a BRAF fusion gene. The aim of this study was to identify BRAF fusion genes in thyroid carcinomas, to correlate them with...