ArticleScientific reports2019
SDHC epi-mutation testing in gastrointestinal stromal tumours and related tumours in clinical practice.
Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 23 citations in OpenAlex.
- Altered Expression of Mitochondrial Succinate Dehydrogenase Subunit D Influences Breast Cancer Progression.International journal of molecular sciences · 2026Article
- Celebrating Ulrik Ringborg: Multi-Omics-Based Patient Stratification for Precision Cancer Treatment.Biomolecules · 2025Review
- A Review of Genomic Testing and SDH- Deficiency in Gastrointestinal Stromal Tumors: Getting to the GIST.Cancer medicine · 2025Review
- Article
- Pathologic diagnosis and molecular features of gastrointestinal stromal tumors: a mini-review.Frontiers in oncology · 2024Review
- PreferentialJournal of clinical pathology · 2023Article
- Expanded genetic testing of GIST patients identifies high proportion of non-syndromic patients with germline alterations.NPJ precision oncology · 2023Article
- Association of Nrf2 expression and mutation with Weiss and Helsinki scores in adrenocortical carcinoma.Cancer science · 2022Article
- New treatment strategies for advanced-stage gastrointestinal stromal tumours.Nature reviews. Clinical oncology · 2022Review
- Increased expression of Nrf2 and elevated glucose uptake in pheochromocytoma and paraganglioma with SDHB gene mutation.BMC cancer · 2022Article
- Single nucleotide variants of succinate dehydrogenase A gene in renal cell carcinoma.Cancer science · 2021Article
- Familial wild-type gastrointestinal stromal tumour in association with germline truncating variants in both SDHA and PALB2.European journal of human genetics : EJHG · 2021Article
- Identification of gene signatures and potential therapeutic targets for acquired chemotherapy resistance in gastric cancer patients.Journal of gastrointestinal oncology · 2021Article
- The role of [EJNMMI research · 2021Article
- Genetic stratification of inherited and sporadic phaeochromocytoma and paraganglioma: implications for precision medicine.Human molecular genetics · 2020Review
- Mefloquine Inhibits Esophageal Squamous Cell Carcinoma Tumor Growth by Inducing Mitochondrial Autophagy.Frontiers in oncology · 2020Article
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Authors and funding
21 authors at 3 institutions in 1 country.
Funding
Abstract
The enzyme succinate dehydrogenase (SDH) functions in the citric acid cycle and loss of function predisposes to the development of phaeochromocytoma/paraganglioma (PPGL), wild type gastrointestinal stromal tumour (wtGIST) and renal cell carcinoma. SDH-deficient tumours are most commonly associated with a germline SDH subunit gene (SDHA/B/C/D) mutation but can also be associated with epigenetic silencing of the SDHC gene. However, clinical diagnostic testing for an SDHC epimutation is not widely available. The objective of this study was to investigate the indications for and the optimum diagnostic pathways for the detection of SDHC epimutations in clinical practice. SDHC promoter methylation analysis of 32 paraffin embedded tumours (including 15 GIST and 17 PPGL) was performed using a pyrosequencing technique and correlated with SDHC gene expression. SDHC promoter methylation was identified in 6 (18.7%) tumours. All 6 SDHC epimutation cases presented with SDH deficient wtGIST and 3/6 cases had multiple primary tumours. No case of constitutional SDHC promoter hypermethylation was detected. Whole genome sequencing of germline DNA from three wtGIST cases with an SDHC epimutation, did not reveal any causative sequence anomalies. Herein, we recommend a diagnostic workflow for the detection of an SDHC epimutation in a service setting.
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