Endocrine Abstracts

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...

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 ...

BRAFV600E mutation is the most frequent genetic alteration (29–83%) of papillary thyroid carcinoma (PTC). Many authors have demonstrated that the presence of the mutation is associated with a more advanced tumor stage at diagnosis and a worse outcome but anyone assessed if BRAFV600E mutation could be useful prognostic marker in low risk PTC patients (T1-T2N0M0, 7th TNM classification).Aim of this study was to evaluate if the presence of BRAFV600E mu...