Endocrine Abstracts

Introduction: Medullary thyroid cancer (MTC), in its familial forms, is usually associated with pheochromocytoma and primary hyperparathyroidism, related to an underlying germline RET mutation. SDHx germline mutations associated with MTC have not yet been reported.Case report: We report the case of a 60-years-old woman, who was submitted, elsewhere, in November/2013, to a total thyroidectomy+right lymph-node dissection due to a nodule s...

Introduction: Anaplastic thyroid carcinoma (ATC) is characterized by an aggressive clinical course and refractoriness to currently available local and systemic modalities of treatment. It is considered the most aggressive solid tumor, with few patients alive more than 1 year following diagnosis.Bible et al have reported a combined therapy of radiation and radiosensitizing adjuvant chemotherapy, with some positive results.Case repor...

The hyperparathyroidism-jaw tumour (HPT-JT) syndrome is an autosomal dominant disease characterised by the occurrence of parathyroid tumours, which are often carcinomas, and fibro-osseous tumours of the jaw bones. The HPT-JT gene is on chromosome 1q25 and consists of 17 exons that encode a 531 amino-acid protein, designated PARAFIBROMIN (Nature Genetics, in press). Thirteen heterozygous germline mutations that result in truncated or inactivated forms of PARAFIBROMIN have been ...