Endocrine Abstracts

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...

In this study we describe a new allelic variant of RET, identified in a family with Medullary Thyroid Cancer (MTC) and negative for the classical RET mutations, that causes an Arg982Cys substitution in exon 18.The “in silico” analysis has shown that this variant has a reduced compatibility [score 15] with the normal biological activity of the native protein and could therefore be a transforming mutation.The aim of this wo...

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...

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 ...