Endocrine Abstracts

Medullary thyroid carcinoma (MTC) is a rare tumor arising from neural crest-derived parafollicular C cells. MTC occurs either in sporadic or familial form. A key role in the development of MTC is played by the RET proto-oncogene, as virtually all familial and half sporadic MTC cases feature RET point mutations. These mutations lead to the constitutive activation of the RET kinase and its oncogene conversion. Mutations targeting extracellular cysteines cause disulfide-bond medi...

In a series of 66 sporadic medullary thyroid carcinomas (MTC) we looked for mutations in RET, RAS and BRAF protooncogenes and correlated mutational analysis with the clinicopathological data of the patients. We performed PCR amplification and sequencing analysis of exons 5, 8, 10–16 of RET, of the three mutational hotspots (codons 12, 13, and 61) of the H-, K-, and N-RAS genes, and of the mutational hotspot (codon 600) and exon 11 of the BRAF gene. Somatic RET mutations w...

Medullary thyroid cancer (MTC) accounts for 5–10% of all thyroid cancers and can be either sporadic (75%) or familial (25%). Familial MTC is associated with hereditary syndromes such as Multiple Endocrine Neoplasia (MEN) type 2A or 2B and Familial Medullary Thyroid Cancer (FMTC). Sporadic MTC most often present as thyroid nodule and fine needle aspiration cytology combined with elevated plasma calcitonin levels is diagnostic in about 90% of cases. Hereditary forms of MTC ...

Many (40%) patients with medullary thyroid carcinoma (MTC) are cured after initial surgery, others may survive for decades despite persistent disease, and few patients with advanced disease (estimated annual incidence in France: 50 cases) may require novel therapeutic modalities. An activating RET mutation is found in all hereditary MTCs and in half of sporadic MTCs, and is believed to be responsible for the neoplastic transformation of C-cells and for their development. Drugs...