ReviewJournal of internal medicine2009
SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma-paraganglioma syndromes.
Review in Journal of internal medicine, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 121 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
121 citing papers in PubMed, 1 synthesis or guideline pooled it, 273 citations in OpenAlex.
- Predictors of recurrence of pheochromocytoma and paraganglioma: a multicenter study in Piedmont, Italy.Hypertension research : official journal of the Japanese Society of Hypertension · 2020Pooled it
- Immunohistochemistry and Mutation Analysis ofInternational journal of molecular sciences · 2020Trial
- FROM DISCOVERY SCIENCE TO THE CLINIC - HERITABLE ENDOCRINE CANCERS AND RELATED DISORDERS: Functional imaging in hereditary endocrine neoplasms: evolving modalities and clinical implications.Endocrine-related cancer · 2026Review
- Altered Expression of Mitochondrial Succinate Dehydrogenase Subunit D Influences Breast Cancer Progression.International journal of molecular sciences · 2026Article
- Mitochondrial oxidative stress, cellular damages and stem cell aging in premature aging models with complex II electron transport defect.Journal of clinical biochemistry and nutrition · 2025Article
- Comprehensive molecular profiling of FH-deficient renal cell carcinoma identifies molecular subtypes and potential therapeutic targets.Nature communications · 2025Article
- Article
- A Mathematical Exploration of SDH-b Loss in Chromaffin Cells.Bulletin of mathematical biology · 2025Article
- Germline predisposition in multiple myeloma.iScience · 2025Article
- Treatment with radiotherapy in carotidal paraganglioma: experience of the General Hospital of Mexico.Reports of practical oncology and radiotherapy : journal of Greatpoland Cancer Center in Poznan and Polish Society of Radiation Oncology · 2025Article
- Succinate dehydrogenase deficiency-driven succinate accumulation induces drug resistance in acute myeloid leukemia via ubiquitin-cullin regulation.Nature communications · 2024Article
- Differential expression of nuclear-derived mitochondrial succinate dehydrogenase genes in metabolically active buffalo tissues.Molecular biology reports · 2024Article
- Identification of Predictors of Metastatic Potential in Paragangliomas to Develop a Prognostic Score (PSPGL).Journal of the Endocrine Society · 2024Article
- Management of phaeochromocytoma and paraganglioma in patients with germline SDHB pathogenic variants: an international expert Consensus statement.Nature reviews. Endocrinology · 2024Review
- Effectiveness of cardiopulmonary bypass for radical resection of giant middle mediastinal paraganglioma.Journal of cardiovascular and thoracic research · 2024Article
- Molecular characteristics and immune microenvironment of gastrointestinal stromal tumours: targets for therapeutic strategies.Frontiers in oncology · 2024Review
- Advancing the neuroimaging diagnosis and understanding of mitochondrial disorders.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2024Review
- FH Variant Pathogenicity Promotes Purine Salvage Pathway Dependence in Kidney Cancer.Cancer discovery · 2023Article
- Cytoplasmic HIF-2α as tissue biomarker to identify metastatic sympathetic paraganglioma.Scientific reports · 2023Article
- Two Patients Diagnosed as Succinate Dehydrogenase Deficiency: Case Report.Molecular syndromology · 2023Article
61 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
Abstract
A genetic predisposition for paragangliomas and adrenal or extra-adrenal phaeochromocytomas was recognized years ago. Beside the well-known syndromes associated with an increased risk of adrenal phaeochromocytoma, Von Hippel Lindau disease, multiple endocrine neoplasia type 2 and neurofibromatosis type 1, the study of inherited predisposition to head and neck paragangliomas led to the discovery of the novel 'paraganglioma-phaeochromocytoma syndrome' caused by germline mutations in three genes encoding subunits of the succinate dehydrogenase (SDH) enzyme (SDHB, SDHC and SDHD) thus opening an unexpected connection between mitochondrial tumour suppressor genes and neural crest-derived cancers. Germline mutations in SDH genes are responsible for 6% and 9% of sporadic paragangliomas and phaeochromocytomas, respectively, 29% of paediatric cases, 38% of malignant tumours and more than 80% of familial aggregations of paraganglioma and phaeochromocytoma. The disease is characterized by autosomal dominant inheritance with a peculiar parent-of-origin effect for SDHD mutations. Life-time tumour risk seems higher than 70% with variable clinical manifestantions depending on the mutated gene. In this review we summarize the most recent knowledge about the role of SDH deficiency in tumorigenesis, the spectrum and prevalence of SDH mutations derived from several series of cases, the related clinical manifestantions including rare phenotypes, such as the association of paragangliomas with gastrointestinal stromal tumours and kidney cancers, and the biological hypotheses attempting to explain genotype to phenotype correlation.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.