ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018
Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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39 citing papers in PubMed, 66 citations in OpenAlex.
- Metabolic permissiveness: how tissue context shapes cancer.Genes & development · 2026Review
- Presentation of a missense MDH2 variant in a Greek patient with pheochromocytoma.Hormones (Athens, Greece) · 2026Review
- Malignant Carotid Body Tumor in a Young Female Patient: Case Report with Review of Literature.Cureus · 2025Article
- Update on Systemic Therapies for Metastatic/Unresectable Pheochromocytomas and Paragangliomas and Future Directions.Cancers · 2025Review
- The Molecular Classification of Pheochromocytomas and Paragangliomas: Discovering the Genomic and Immune Landscape of Metastatic Disease.Endocrine pathology · 2024Review
- Non-Susceptibility Gene Variants in Head and Neck Paragangliomas.International journal of molecular sciences · 2024Article
- Novel Gene Variants in a Nationwide Cohort of Patients with Pheochromocytoma and Paraganglioma.International journal of molecular sciences · 2024Article
- Molecular Genetics of Pheochromocytoma/Paraganglioma.Current opinion in endocrine and metabolic research · 2024Article
- Case report: A rare DLST mutation in patient with metastatic pheochromocytoma: clinical implications and management challenges.Frontiers in oncology · 2024Article
- Tumour microenvironment in pheochromocytoma and paraganglioma.Frontiers in endocrinology · 2023Review
- The connection between tricarboxylic acid cycle enzyme mutations and pseudohypoxic signaling in pheochromocytoma and paraganglioma.Frontiers in endocrinology · 2023Review
- Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature.Molecular genetics and metabolism reports · 2022Article
- Palmitoylation of MDH2 by ZDHHC18 activates mitochondrial respiration and accelerates ovarian cancer growth.Science China. Life sciences · 2022Article
- Universal Germline Panel Testing for Individuals With Pheochromocytoma and Paraganglioma Produces High Diagnostic Yield.The Journal of clinical endocrinology and metabolism · 2022Article
- New Insights on the Genetics of Pheochromocytoma and Paraganglioma and Its Clinical Implications.Cancers · 2022Review
- Co-occurrence of mutations inFrontiers in endocrinology · 2022Article
- Simultaneous bilateral laparoscopic cortical-sparing adrenalectomy for bilateral pheochromocytomas in multiple endocrine neoplasia type 2.Frontiers in surgery · 2022Article
- Pheochromocytoma and paraganglioma: germline genetics and hereditary syndromes.Endocrine oncology (Bristol, England) · 2022Review
- Potential Biomarkers of Metastasizing Paragangliomas and Pheochromocytomas.Life (Basel, Switzerland) · 2021Review
- Metastatic pheochromocytoma and paraganglioma: signs and symptoms related to catecholamine secretion.Discover oncology · 2021Article
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33 authors at 20 institutions in 8 countries.
Funding
Abstract
purposeMDH2 (malate dehydrogenase 2) has recently been proposed as a novel potential pheochromocytoma/paraganglioma (PPGL) susceptibility gene, but its role in the disease has not been addressed. This study aimed to determine the prevalence of MDH2 pathogenic variants among PPGL patients and determine the associated phenotype.
methodsEight hundred thirty patients with PPGLs, negative for the main PPGL driver genes, were included in the study. Interpretation of variants of unknown significance (VUS) was performed using an algorithm based on 20 computational predictions, by implementing cell-based enzymatic and immunofluorescence assays, and/or by using a molecular dynamics simulation approach.
resultsFive variants with potential involvement in pathogenicity were identified: three missense (p.Arg104Gly, p.Val160Met and p.Ala256Thr), one in-frame deletion (p.Lys314del), and a splice-site variant (c.429+1G>T). All were germline and those with available biochemical data, corresponded to noradrenergic PPGL.
conclusionThis study suggests that MDH2 pathogenic variants may play a role in PPGL susceptibility and that they might be responsible for less than 1% of PPGLs in patients without pathogenic variants in other major PPGL driver genes, a prevalence similar to the one recently described for other PPGL genes. However, more epidemiological data are needed to recommend MDH2 testing in patients negative for other major PPGL genes.
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