Searchable abstracts of presentations at key conferences in endocrinology

ea0056gp43 | Adrenal medulla and NETs | ECE2018

Ex vivo metabolomic profiling in phaeochromocytoma, paraganglioma and GIST tumours: lessons learned

Casey Ruth , Madhu Basetti , Challis Benjamen G , Clark Graeme R , ten Hoopen Rogier , Giger Olivier , Marker Alison , Bulusu Venkata R , McLean Mary , Gallagher Ferdia A , Maher Eamonn R

Recent discoveries in mutations in TCA cycle enzymes; succinate dehydrogenase (SDH), fumarate hydratase (FH), iso-citrate dehydrogenase (IDH) and malate dehydrogenase MDH2, have reinforced the link between mitochondrial dysfunction and cancer1. Phaeochromocytoma and paraganglioma (PPGL) are now recognised to be the most heritable tumour, with 40%1 having a genetic defect. Mutations in the SDH genes are the most frequently implicated genetic abnor...

ea0015oc1 | Young Endocrinologist prize session | SFEBES2008

Clinical manifestations of familial paraganglioma and phaeochromocytomas in succinate dehydrogenase B gene mutation carriers

Srirangalingam Umasuthan , Walker Lisa , Khoo Bernard , MacDonald Fiona , Gardner Daphne , Wilkin Terence J , Skelly Robert H , George Emad , Spooner David , Monson John P , Grossman Ashley B , Akker Scott A , Pollard Patrick J , Plowman Nick , Avril Norbert , Berney Dan M , Burrin Jacky M , Reznek Rodney , Ajith Kumar VK , Maher Eamonn R , Chew Shern L

Background: Phaeochromocytomas and paragangliomas are familial in up to 25% of cases and can result from succinate dehydrogenase (SDH) gene mutations.Objective: To describe the clinical manifestations of subjects with SDH-B gene mutations.Design: Retrospective case series.Patients: Thirty-two subjects with SDH-B gene mutations followed-up between 1975 and 2007. Mean follow-up of 5.8 years (S.D....