Endocrine Abstracts

Inherited cancer syndromes with phaeochromocytoma as a component feature include von Hippel-Lindau syndrome (VHL, MIM 193300) and multiple endocrine neoplasia type 2 (MEN 2, MIM 171400), and less frequently, neurofibromatosis type 1. In addition germline mutations in the SDHB and SDHD (succinate dehydrogenase subunits B and D) genes cause susceptibility to phaeochromocytoma and/or head and neck paragangliomas (Reviewed in Maher ER Eng C. The pressure rises: update on the genet...

The interplay between the von Hippel Lindau (VHL) protein and hypoxia-inducible factor (HIF) will be reviewed and the extent to which this explains the pathogenesis of VHL disease will be discussed.HIF is a master regulator of the transcriptional response to diminished tissue oxygenation, controlling such processes as angiogenesis, erythropoietin production, cellular metabolism and influencing cell proliferation / survival decisions. HIF itself is a heterodimer, dominantly...

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant tumor predisposition syndrome characterized by pituitary, parathyroid and enteropancreatic endocrine tumors. Molecular genetic studies of patients with MEN1 indicate that the MEN1 gene functions as a tumor suppressor gene with germline loss-of-function mutations in one allele, and somatic loss-of-function mutations of the second allele causing tumor formation. The gene is highly conserved in all vertebrate spe...

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterised by tumours of the parathyroids, pancreatic islets and anterior pituitary, which may occur in 95%, >40% and >30% of patients, respectively. Parathyroid tumours, leading to hypercalcaemia, are the first manifestation of MEN1 in >85% of patients, and amongst the pituitary and pancreatic tumours, somatotrophinomas and gastrinomas are more common in patients above the age of 40 years...