Succinate: A Serum Biomarker of SDHB-Mutated Paragangliomas and Pheochromocytomas
| العنوان: | Succinate: A Serum Biomarker of SDHB-Mutated Paragangliomas and Pheochromocytomas |
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| المؤلفون: | Constance Lamy, Hubert Tissot, Matthieu Faron, Eric Baudin, Livia Lamartina, Caroline Pradon, Abir Al Ghuzlan, Sophie Leboulleux, Jean-Luc Perfettini, Angelo Paci, Julien Hadoux, Sophie Broutin |
| المصدر: | The Journal of Clinical Endocrinology & Metabolism. 107:2801-2810 |
| بيانات النشر: | The Endocrine Society, 2022. |
| سنة النشر: | 2022 |
| مصطلحات موضوعية: | Endocrinology, Diabetes and Metabolism, Biochemistry (medical), Clinical Biochemistry, Adrenal Gland Neoplasms, Succinic Acid, Pilot Projects, Pheochromocytoma, Biochemistry, Paraganglioma, Succinate Dehydrogenase, Endocrinology, Mutation, Biomarkers, Tumor, Humans, Germ-Line Mutation, Retrospective Studies |
| الوصف: | Context Pheochromocytomas and paragangliomas (PPGL) are rare neuroendocrine tumors that are frequently associated with succinate dehydrogenase (SDH) germline mutations. When mutated, SDH losses its function, thus leading to succinate accumulation. Objective In this study, we evaluated serum succinate levels as a new metabolic biomarker in SDHx-related carriers. Methods Retrospective monocentric study of 88 PPGL patients (43 sporadic, 35 SDHB, 10 SDHA/C/D), 17 tumor-free familial asymptomatic carriers (13 SDHB, 4 SDHC/D), and 60 healthy controls. Clinical, biological, and imaging data were reviewed. Serum succinate levels (n = 280) were quantified by an ultra-performance liquid chromatography coupled to a tandem mass spectrometry method and correlated to SDHx mutational status, disease extension, and other biological biomarkers. Results Serum succinate levels > 7 μM allowed identification of tumor-free asymptomatic SDHB-mutated cases compared to a healthy control group (100% specificity; 85% sensitivity). At PPGL diagnosis, SDHB-mutated patients had a significantly increased median succinate level (14 μM) compared to sporadic patients (8 μM) (P Conclusions In this pilot study, we showed that serum succinate level is an oncometabolic biomarker that should be useful to identify SDHB-related carriers. Succinate levels are also a marker of metabolic tumor burden in patients with a metastatic PPGL and a potential marker of treatment response and follow-up. |
| تدمد: | 1945-7197 0021-972X |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f8f77fce8ebc3bbc1ef2f923f556034 https://doi.org/10.1210/clinem/dgac474 |
| حقوق: | CLOSED |
| رقم الأكسشن: | edsair.doi.dedup.....8f8f77fce8ebc3bbc1ef2f923f556034 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 19457197 0021972X |
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