Endocrine Abstracts

Objectives: Distant metastases in MTC adversely affect disease prognosis. Somatic mutations in spMTC as well as Variant Allele Frequency (VAF) have been related to tumor burden, disease course and the response to TKIs. The aim of this study is to report three cases of nucleotide (nt) insertions/deletions (indels) in the RET oncogene in relation to disease course/response to TKIs.Methods: Of 195 spMTC patients followed-up in Dept. Clinical Therap...

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...