Endocrine Abstracts

The RET proto-oncogene, located on chromosome 10q11.2 encodes a receptor tyrosine kinase. Its extracellular portion contains four cadherin-like repeats and a cysteine-rich region, while the intracellular portion contains the tyrosine kinase domain. RET is essential for development of the sympathetic, parasympathetic and enteric nervous systems and the kidney. Accordingly, RET disruption by germline mutations causes congenital agangliosis of the gastrointestinal tract (Hirschsp...

Medullary thyroid carcinoma (MTC) is a neuroendocrine tumour of the parafollicular cells of the thyroid gland accounting for 5–15% of thyroid carcinomas. Most medullary thyroid carcinomas occur sporadic while up to 25% are familial as part of the multiple endocrine neoplasia type 2 (MEN-2). Most of the carcinomas have already metastasized at the time of detection. Surgical therapy is the treatment of choice in patients with MTC, both for patients with the familial and the...

Hypoxia Inducible Factor (HIF) is a master regulator of the transcriptional homeostatic response to oxygen deprivation. It was originally discovered in the context of regulation of erythropoietin gene expression, but subsequently shown to have a widespread role in coordinating gene expression in response to hypoxia. The pathways regulating the activity of HIF in normal tissue and cancers will be reviewed. Events leading to the development of phaeochromocytoma and other cancers...

Phaeochromocytomas are catecholamine-secreting tumors that usually arise from the adrenal medulla. Catecholamine-secreting tumors may also develop in retroperitoneal, pelvic or thoracic paraganglia. Here, we use the term phaeochromocytoma for catecholamine-secreting adrenal or extra-adrenal tumors. Before 2000, 10 to 15% of the patients with phaeochromocytoma were reported to have family or phenotypic evidence of a hereditary disease: multiple endocrine neoplasia type 2 (MEN2;...