ECE2017 Eposter Presentations: Adrenal and Neuroendocrine Tumours Endocrine tumours and neoplasia (50 abstracts)
Serum succinate: investigation of its putative role as a new biomarker in malignant SDH-x mutated pheochromocytoma-paraganglioma patients?
Constance Lamy 1 , Julien Hadoux 1 , Lionel Mercier 1 , Dorian Bailleux 1 , Ségolène Hescot 1 , Angelo Paci 1, , Eric Baudin 1 & Sophie Broutin 1
1Gustave Roussy, Villejuif, France; 2Université Paris-Sud, Châtenay-Malabry, France.
Introduction: Malignant paraganglioma/pheochromocytoma (MPP) are very rare neuroendocrine tumors with heterogeneous prognostic and no gold-standard treatment. MPP can be associated with germline mutations at SDH-x genes which encode for the succinate dehydrogenase that catalyzes the oxidation of succinate to fumarate. SDH-x mutations lead to inactivation of the enzyme and thus accumulation of succinate.
Aim: This project aims to evaluate succinate as a potential early serum biomarker in SDH-x MPP patients.
Material & Methods: A fully validated LC-MS/MS method has been developed to quantify succinate serum levels. A prospective collection of MPP patients ‘serum has been initiated.
Results: Succinate has been quantified in 108 serum samples collected from 47 MPP patients. Among them 25 presented a SDH-B mutation, 4 a SDH-D mutation and 15 were SDH wild-type (WT). Succinate levels were statistically higher in the SDH-B group (mean =25 μM, min-max: ~3–106 μM) compared to the WT group (mean =7 μM, min-max: 4–11 μM) (P=0.01).
Conclusion: These results suggest a role of succinate as serum biomarker in SDH-x patients. TNM adjustment is ongoing to determine cut-off value that may differentiate mutated vs WT patients. Quantification of serum succinate levels after treatment is in progress and aims to evaluate succinate as a biomarker of response in SDH-x MPP patients.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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