Searchable abstracts of presentations at key conferences in endocrinology

ea0008s27 | Neuroendocrine Tumours | SFE2004

Genotype-Phenotype Correlations in von Hippel-Lindau disease

Maher ER

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...

ea0019oc39 | Thyroid, reproduction and endocrine tumours | SFEBES2009

Contrasting clinical manifestations of SDH-B and VHL associated chromaffin tumours

Srirangalingam U , Khoo B , Walker L , MacDonald F , Skelly RH , George E , Spooner D , Johnston L , Monson JP , Grossman AB , Akker SA , Drake WM , Pollard PJ , Plowman N , Avril N , Berney DM , Burrin JM , Reznek RH , Kumar VKA , Maher ER , Chew SL

Background: Mutations in succinate dehydrogense-B (SDH-B) or von Hippel Lindau (VHL) genes can result in chromaffin tumours.Objective: To compare the clinical phenotypes of subjects developing chromaffin tumours as a result of SDH-B or VHL mutations.Subjects: Thirty-one subjects with chromaffin tumours. Sixteen subjects had SDH-B gene mutations and 15 subjects had a diagnosis of VHL.<p ...