Endocrine Abstracts

Neuroendocrine tumours (NETs) are usually taken to include gastro-enterohepatic tumors including islet cell tumours and carcinoids; recent data suggest an overall incidence of around 30/million/year, but since such tumours usually present late curative surgery is rarely an option and chemotherapy of limited benefit. Radionuclide scintigraphy with somatostatin (SMS) analogues such as 111In-octreotide demonstrate the presence of SMS receptors in some 80%-90% of NETS; we have use...

Pheochromocytoma can present as a sporadic or familial tumor. Classic syndromes include multiple endocrine neoplasia type 2 caused by mutations of the RET gene, Von Hippel-Lindau disease by mutations of the VHL gene and neurofibromatosis by mutations of the NF 1 gene. In 2000 for familial neck paraganglioma the susceptibility gene of succinatedehydrogenasis subunit D, SDHD was identified and subsequently also shown to be mutated in a subset of familial and sporadic pheochromoc...

Von Hippel-Lindau (VHL) disease is a dominantly inherited familial cancer syndrome characterised by a predisposition to retinal and cerebellar haemangioblastomas, renal cell carcinoma (RCC) and renal cysts, phaeochromocytoma and, less frequently, pancreatic islet cell tumours. Although rare, VHL disease provides a paradigm for illustrating the clinical features and significance of familial cancer syndromes and how the molecular genetic analysis of rare inherited cancers can pr...

Adult and paediatric patients with Medullary Thyroid Cancer (MTC) may present in a variety of clinical scenarios. These include patients with a neck mass and 'apparently' sporadic disease or the index case of genetically determined disease (MEN2A/2B or FMTC), individuals from known MTC kindred who may be symptomatic or screen detected (either gene positive with an elevated basal / stimulated calcitonin, or gene positive and normocalcitonaemic) and patients with recurrent disea...