SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and pheochromocytomas
Abstract
Context: Pheochromocytoma-paraganglioma syndrome is caused by mutations in SDHB, SDHC, and SDHD, encoding subunits of succinate dehydrogenase (SDH), and in SDHAF2, required for flavination of SDHA. A recent report described a patient with an abdominal paraganglioma, immunohistochemically negative for SDHA, and identified a causal germline mutation in SDHA. Objective: In this study, we evaluated the significance of SDHA immunohistochemistry in the identification of new patients with SDHA mutations. Setting: This study was performed in the Erasmus Medical Center in Rotterdam (The Netherlands) and the Université Paris Descartes in Paris (France). Methods: We investigated 316 pheochromocytomas and paragangliomas for SDHA expression. Sequence analysis of SDHA was performed on all tumors that were immunohistochemically negative for SDHA and on a subset of tumors immunohistochemically positive for SDHA. Results: Six tumors were immunohistochemically negative for SDHA. Four tumors from Dutch patients showed a germline c.91C→T SDHA gene mutation (p.Arg31X). Another tumor (from France) carried a germline SDHA missense mutation c.1753C→T (p.Arg585Trp). Loss of the wild-type SDHA allele was confirmed by loss of heterozygosity analysis. Sequence analysis of 35 SDHA immunohistochemically positive tumors did not reveal additional SDHA mutations. Conclusions: Our results demonstrate that SDHA immunohistochemistry on paraffin-embedded tumors can reveal the presence of SDHA germline mutations and allowed the identification of SDHA-related tumors in at least 3% of patients affected by apparently sporadic (para)sympathetic paragangliomas and pheochromocytomas.
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Germline SDH mutations in SDHA-SDHD and in SDH assembly factor 2 occur in tumor predisposition syndromes.
“Germline SDH mutations have been identified in the SDH subunits SDHA–SDHD and also in SDH assembly factor 2 in tumor predisposition syndromes (Hao et al., 2009; Korpershoek et al., 2011; Neumann et al., 2004; Niemann and Müller, 2000; Oudijk et al., 2013; Pollard et al., 2005; Ricketts et al., 2008; Ricketts et al., 2010).”
From SIRT5-mediated lysine desuccinylation impacts diverse metabolic pathways (2013) · cites this paper as Korpershoek et al., 2011
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- Authors
- Korpershoek, E., Favier, J., Gaal, J., Burnichon, N., van Gessel, B., Oudijk, L., Badoual, C., Gadessaud, N., Venisse, A., Bayley, J.-P., van Dooren, M. F., de Herder, W. W., Tissier, F., Plouin, P.-F., van Nederveen, F. H., Dinjens, W. N. M., Gimenez-Roqueplo, A.-P., & de Krijger, R. R.
- Affiliations
- Erasmus MC (NL)
- Centre National de la Recherche Scientifique (FR)
- Department of Pathology (E.K., J.G., B.v.G., L.O., F.H.v.N., W.N.M.D., R.R.d.K.), Erasmus MC, University Medical Center Rotterdam, 3000 CA Rotterdam, The Netherlands
- Département de Génétique (N.B., A.V., A.-P.G.-R.), Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Européen Georges Pompidou, 75015 Paris, France
- Leiden University Medical Center (NL)
- Josephine Nefkens Institute, and Departments of Clinical Genetics (M.F.v.D.), Erasmus MC, University Medical Center Rotterdam, 3000 CA Rotterdam, The Netherlands
- Endocrinology (W.W.d.H.), Erasmus MC, University Medical Center Rotterdam, 3000 CA Rotterdam, The Netherlands
- Institut National de la Santé et de la Recherche Médicale (INSERM), Unité (U)970, Paris Cardiovascular Research Center-PARC (J.F., N.B., N.G., A.-P.G.-R.), Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Européen Georges Pompidou, 75015 Paris, France
- Corresponding author
- Korpershoek, Esther
- ORCID
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 2011-09-01
- Volume
- 96
- Issue
- 9
- Pages
- E1472-E1476
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- OpenAlex
- W2019411591
- Cited by
- 277
- References
- 17
- Citations by year
- 2026: 3 · 2025: 4 · 2024: 7 · 2023: 6 · 2022: 19 · 2021: 14 · 2020: 18 · 2019: 20 · 2018: 26 · 2017: 32 · 2016: 17 · 2015: 22 · 2014: 26 · 2013: 29 · 2012: 31
- FWCI
- 29.11
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
- PubMed (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Leiden Repository (Leiden University) (submittedVersion)
- Funders
- Agence Nationale de la Recherche
- Institut National de la Santé et de la Recherche Médicale
- Universiteit Leiden
- Radboud Universiteit
- Erasmus Medisch Centrum
- Leids Universitair Medisch Centrum
- Radboud Universitair Medisch Centrum
- Topics
- Health Sciences › Medicine › Surgery › Adrenal and Paraganglionic Tumors
- Health Sciences › Medicine › Neurology › Neurofibromatosis and Schwannoma Cases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- SDHA, germline mutations, pheochromocytoma, paraganglioma, succinate dehydrogenase, loss of heterozygosity, sporadic cancer
- MeSH terms
- Adrenal Gland Neoplasms, Alleles, DNA Mutational Analysis, Humans, Immunohistochemistry, Paraganglioma, Pheochromocytoma, Germ-Line Mutation, Loss of Heterozygosity, Electron Transport Complex II
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