Abstract #2487

Quantitation of metabolites in human tumour (paraganglioma and GIST) tissues with mitochondrial mutations (SDH and IDH1) by HRMAS 1H NMR spectroscopy

Basetti Madhu¹, Ruth T Casey^2,3, Benjamin G Challis³, Graeme R Clark², Alison Marker⁴, Olivier Giger⁴, Venkata R Bulusu⁵, Mary A McLean¹, Ferdia A Gallagher⁶, and Eamonn R Maher²

¹Imaging Core, Cancer Research UK Cambridge Institute, Cambridge, United Kingdom, ²Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom, ³Department of Endocrinology, Cambridge University Hospital NHS Foundation Trust, Cambridge, United Kingdom, ⁴Department of Histopathology, Cambridge University Hospital NHS Foundation Trust, Cambridge, United Kingdom, ⁵Department of Medical Oncology, Cambridge University Hospital NHS Foundation Trust, Cambridge, United Kingdom, ⁶Department of Radiology, Cambridge University NHS Foundation Trust, Cambridge, United Kingdom

In this study we report, for the first time, the detection of 2HG in IDH1 mutated human GIST tumour tissues by HRMAS ¹H NMR spectroscopy. We quantified the levels of Succinate and 2HG in human paraganglioma and GIST tissues. The lactate, glutamate and glycero-phosphocholine (GPC) concentrations were significantly lower in SDHx mutated tumours compared to wild type (WT) tumour tissues, Detection of higher levels of Succinate in SDH mutated tumour tissue and 2HG in IDH1 mutated tissue and their quantitation will be helpful in the stratification of patient treatment in the clinics.

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