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Endocrine Abstracts

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ea0059oc1.5 | Translational highlights | SFEBES2018

In vivo and ex vivo metabolomics in succinate dehydrogenase deficient tumorigenesis

Casey Ruth , Basetti Madhu , McLean Mary , Challis Ben , Gallagher Ferdia , Maher Eamonn

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<...
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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...
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Published by BioScientifica

Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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