ArticleEndocrine connections2018
Germline SDHB and SDHD mutations in pheochromocytoma and paraganglioma patients.
Article in Endocrine connections, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 28 citations in OpenAlex.
- Succinate Dehydrogenase Complex Iron Sulfur Subunit B (SDHB) Immunohistochemistry in Pheochromocytoma, Head and Neck Paraganglioma, Thoraco-Abdomino-Pelvic Paragangliomas: Is It a Good Idea to Use in Routine Work?Asian Pacific journal of cancer prevention : APJCP · 2021Pooled it
- Clinical and Genetic Characteristics of Pheochromocytoma and Paraganglioma: A Single-Center Experience Including a Rare VHL Variant.Journal of clinical medicine · 2026Article
- Clinical exome next‑generation sequencing panel for hereditary pheochromocytoma and paraganglioma diagnosis.Experimental and therapeutic medicine · 2025Article
- Single-Cell RNA sequencing reveals mitochondrial dysfunction in microtia chondrocytes.Scientific reports · 2025Article
- Two sisters diagnosed with familial paraganglioma syndrome type 1 (FPGL1) and multiple endocrine neoplasia type 2A (MEN2A).World journal of surgical oncology · 2024Article
- Genetic impairment of succinate metabolism disrupts bioenergetic sensing in adrenal neuroendocrine cancer.Cell reports · 2022Article
- Effects of pretreatment with terazosin and valsartan on intraoperative haemodynamics in patients with phaeochromocytoma.European journal of hospital pharmacy : science and practice · 2022Article
- Efficacy of Immunohistochemistry for SDHB in the Screening of Hereditary Pheochromocytoma-Paraganglioma.Biology · 2021Article
- Blackout in the powerhouse: clinical phenotypes associated with defects in the assembly of OXPHOS complexes and the mitoribosome.The Biochemical journal · 2020Review
- Mitochondrial metabolism and cancer metastasis.Annals of translational medicine · 2020Review
- Identification of a novel SDHB c.563 T > C mutation responsible for Paraganglioma syndrome and genetic analysis of the SDHB gene in China: a case report.BMC medical genetics · 2020Article
- Identification of Genes Associated with the Metastasis of Pheochromocytoma/Paraganglioma Based on Weighted Gene Coexpression Network Analysis.BioMed research international · 2020Article
- SDHx-related pheochromocytoma/paraganglioma - genetic, clinical, and treatment outcomes in a series of 30 patients from a single center.Endocrine · 2019Article
- The Emerging Role of Succinate Dehyrogenase Genes (SDHx) in Tumorigenesis.International journal of hematology-oncology and stem cell research · 2019Article
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pheochromocytoma and paragangliomas (PCC/PGL) are neuroendocrine tumors that arise from chromaffin cells of the adrenal medulla and sympathetic/parasympathetic ganglia, respectively. Of clinical relevance regarding diagnosis is the highly variable presentation of symptoms in PCC/PGL patients. To date, the clear-cut correlations between the genotypes and phenotypes of PCC/PGL have not been entirely established. In this study, we reviewed the medical records of PCC/PGL patients with pertinent clinical, laboratory and genetic information. Next-generation sequencing (NGS) performed on patient samples revealed specific germline mutations in the SDHB (succinate dehydrogenase complex iron-sulfur subunit B) and SDHD (succinate dehydrogenase complex subunit D) genes and these mutations were validated by Sanger sequencing. Of the 119 patients, two were identified with SDHB mutation and one with SDHD mutation. Immunohistochemical (IHC) staining was used to analyze the expression of these mutated genes. The germline mutations identified in the SDH genes were c343C>T and c.541-542A>G in the SDHB gene and c.334-337delACTG in the SDHD gene. IHC staining of tumors from the c.343C>T and c.541-2A>G carriers showed positive expression of SDHB. Tumors from the c.334-337delACTG carrier showed no expression of SDHD and a weak diffused staining pattern for SDHB. We strongly recommend genetic testing for suspected PCC/PGL patients with a positive family history, early onset of age, erratic hypertension, recurrence or multiple tumor sites and loss of SDHB and/or SDHD expression. Tailored personal management should be conducted once a patient is confirmed as an SDHB and/or SDHD mutation carrier or diagnosed with PCC/PGL.
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