Endocrine Abstracts

Mutations affecting the mitochondrial enzyme succinate dehydrogenase (SDH) are associated with a wide spectrum of tumours. SDH deficient tumours have a unique tumour metabolome due to the interruption of the citric acid cycle and accumulation of the ‘oncometabolite’ succinate, which drives tumourigenesis. Investigating the tumour metabolome of SDH deficient tumours has potential translational application. MRI spectroscopy (1H-MRS) was used for in vivo<...

Tumours caused by mutations in the SDH enzyme complex have a unique tumour metabolome due to a truncated citric acid cycle. The accumulation of the onco-metabolite succinate is believed to drive tumourigenesis. The aim was to investigate the role of MRI spectroscopy (H-MRS) to detect in vivo succinate elevations in suspected SDH deficient tumours including GIST, phaeochromocytoma/paraganglioma (PPGL) and pituitary adenomas (PA). Suitable patients were identified based...

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...