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
Subject — renal cell carcinoma; RCC; succinate dehydrogenase; SDH; SDH-deficient RCC; incidence; diagnosis
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
Type info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion — —
Format text/html application/epub+zip text/xml application/pdf
Identifier 10.4102/sajo.v7i0.252
Source South African Journal of Oncology; Vol 7 (2023); 7 pages 2523-0646 2518-8704
Language eng
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Rights Copyright (c) 2023 Ella Morrison, Jacqueline Goedhals, Shireen Pretorius, Gina Joubert, Anthony Gill, Gerhard van der Westhuizen