Endocrine Abstracts

Background: Human cancer is characterized by the accumulation of somatic alterations including base substitutions, indels, structural rearrangements and somatic copy number alteration (CNA), either gain or loss, of chromosomes that can be responsible either for initiation and/or cancer progression. About 80% of Sporadic Medullary Thyroid Carcinoma (sMTC) harbor RET or RAS somatic alterations with a negative prognostic role for the presence of the RET mutation; a few s...

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...