Searchable abstracts of presentations at key conferences in endocrinology

ea0086oc2.5 | Endocrine Cancer and Late Effects | SFEBES2022

Plasma metabolites correlate with disease in sdhx deficient cancer syndromes

Cole Yasemin , Abramovich Ifat , Fernandes-Garcia Jonatan , Docquier France , MacFarlane James , Challis Ben , Maher Eamonn , Gottlieb Eyal , Casey Ruth

Approximately 40% of phaeochromocytomas and paragangliomas (PPGL) are associated with a germline mutation. These individuals have a lifetime tumour risk and in the case of SDHx germline mutations, there is a risk of multiple tumours and malignancy. We sought to discover plasma metabolites associated with succinate dehydrogenase (SDH) deficiency and tumorigenesis for potential use as predictive and/or prognostic biomarkers. Plasma samples were collected prospectively from a cli...