Succinate dehydrogenase-deficient renal cell carcinoma: A retrospective study, 1999–2018
SA Journal of Oncology
| Field | Value | |
| Title | Succinate dehydrogenase-deficient renal cell carcinoma: A retrospective study, 1999–2018 | |
| Creator | Morrison, Ella Goedhals, Jacqueline Pretorius, Shireen Joubert, Gina Gill, Anthony J. van der Westhuizen, Gerhard | |
| Description | Background: Succinate dehydrogenase-deficient (SDH-deficient) renal cell carcinoma (RCC) is a rare subtype of RCC. Approximately 0.05% – 0.2% of RCCs are SDH-deficient. It is usually associated with a pathogenic germline variant of the enzyme. Although the tumour is often indolent, it has a strong association with hereditary disease, most commonly paraganglioma and/or pheochromocytoma, and genetic testing is advised. Succinate dehydrogenase-deficient RCC is diagnosed by immunohistochemical (IHC) staining for SDH subunit B (SDHB), with loss of staining confirming SDHB deficiency. The incidence of SDH-deficient RCC in South Africa is unknown.Aim: To determine the incidence of SDH-deficient RCC in the Free State Province and its correlation with the worldwide incidence of 0.05% – 0.2%.Setting: Department of Anatomical Pathology, Universitas Academic Hospital and National Health Laboratory Service (NHLS) in Bloemfontein, South Africa.Methods: A retrospective descriptive study was performed. All primary RCCs diagnosed over a 20-year period (1999–2018) were included. An SDHB IHC stain was performed on all cases. A diagnosis of SDH-deficient RCC required loss of staining in all tumour cells in the presence of internal positive controls.Results: The study included 187 RCC cases. Two cases of SDH-deficient RCC were identified, representing an incidence of 1.1%. Both patients were male and were 22 and 44 years of age, respectively.Conclusion: The incidence of SDH-deficient RCC in central South Africa is slightly higher than global findings.Contribution: This study provides new data on SDH-deficient RCC in the South African context. | |
| Publisher | AOSIS | |
| Date | 2023-06-08 | |
| Identifier | 10.4102/sajo.v7i0.252 | |
| Source | South African Journal of Oncology; Vol 7 (2023); 7 pages 2523-0646 2518-8704 | |
| Language | eng | |
| Relation |
The following web links (URLs) may trigger a file download or direct you to an alternative webpage to gain access to a publication file format of the published article:
https://sajo.org.za/index.php/sajo/article/view/252/760
https://sajo.org.za/index.php/sajo/article/view/252/761
https://sajo.org.za/index.php/sajo/article/view/252/762
https://sajo.org.za/index.php/sajo/article/view/252/763
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