Endocrine Abstracts

Familial medullary thyroid carcinoma (FMTC) is an autosomal dominant inherited disease, characterized by germ-line mutations in the RET proto-oncogene, mainly in exons 10 and 11, but also in exons 13, 14 and 15. Recently, there were described also mutations in exon 8 and 16 associated with FMTC. In our laboratory the screening of six risk exons of the RET proto-oncogene in 141 families with MTC was performed. 10 families were classified as clinically FMTC. In 4 of them mutatio...

Introduction: Activating point mutations in the RAS genes (H-RAS, K-RAS, N-RAS) are reported in thyroid tumors. The aim of this study was to determine the frequency of RAS mutations in 98 patients with thyroid tumors.Methods: DNA was extracted from 72 fresh frozen thyroid samples and 26 paraffin-embedded formalin-fixed samples. The cohort contained 83 PTCs (56 FVPTCs, 14 mixed follicular-classical types, 11 classical variants and two other rare variants)...