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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 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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Cites
Mutations in SDHD , a Mitochondrial Complex II Gene, in Hereditary Paraganglioma
Baysal, B. E., Ferrell, R. E., Willett-Brozick, J. E., Lawrence, E. C., Myssiorek, D., Bosch, A., Mey, A. V. D., Taschner, P. E. M., Rubinstein, W. S., Myers, E. N., et al. (2000) · Science · doi:10.1126/science.287.5454.848 · Cited by 1,638
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Mutations in SDHC cause autosomal dominant paraganglioma, type 3
Niemann, S., & Müller, U. (2000) · Nature Genetics · doi:10.1038/81551 · Cited by 875
Bourgeron, T., Rustin, P., Chretien, D., Birch-Machin, M., Bourgeois, M., Viegas-Péquignot, E., Munnich, A., & Rötig, A. (1995) · Nature Genetics · doi:10.1038/ng1095-144 · Cited by 730
SDH5 , a Gene Required for Flavination of Succinate Dehydrogenase, Is Mutated in Paraganglioma
Hao, H.-X., Khalimonchuk, O., Schraders, M., Dephoure, N., Bayley, J.-P., Kunst, H., Devilee, P., Cremers, C. W. R. J., Schiffman, J. D., Bentz, B. G., et al. (2009) · Science · doi:10.1126/science.1175689 · Cited by 702
Self-citationSDHA is a tumor suppressor gene causing paraganglioma
Burnichon, N., Brière, J.-J., Libé, R., Vescovo, L., Rivière, J., Tissier, F., Jouanno, E., Jeunemaı̂tre, X., Bénit, P., Tzagoloff, A., et al. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq206 · Cited by 645
Self-citationvan Nederveen, F. H., Gaal, J., Favier, J., Korpershoek, E., Oldenburg, R. A., de Bruyn, E. M., Sleddens, H. F. B. M., Derkx, P., Rivière, J., Dannenberg, H., et al. (2009) · The Lancet Oncology · doi:10.1016/s1470-2045(09)70164-0 · Cited by 554
Self-citationSDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma
Bayley, J., Kunst, H. P. M., Cascón, A., Sampietro, M. L., Gaal, J., Korpershoek, E., Hinojar‐Gutiérrez, A., Timmers, H. J. L. M., Hoefsloot, L. H., Hermsen, M. A. J. A., et al. (2010) · The Lancet Oncology · doi:10.1016/s1470-2045(10)70007-3 · Cited by 283
Self-citationSuccinate dehydrogenase and fumarate reductase from Escherichia coli
Cecchini, G., Schröder, I., Gunsalus, R. P., & Maklashina, E. (2002) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/s0005-2728(01)00238-9 · Cited by 279
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Self-citationOverview of the 2022 WHO Classification of Paragangliomas and Pheochromocytomas
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Metadata
- 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 › Clinical 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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