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Cited by 108Adrenal and Paraganglionic TumorsMetabolism and Genetic DisordersNeurofibromatosis and Schwannoma Cases

Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromocytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocytomas

Benn, Diana E, Croxson, Michael S, Tucker, Kathy, Bambach, Christopher P, Richardson, Anne Louise, Delbridge, Leigh, Pullan, Peter T, Hammond, Jeremy +2 more·2003·Oncogene
DOI 10.1038/sj.onc.1206300
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Abstract

Phaeochromocytomas arising in adrenal or extra-adrenal sites and paragangliomas of the head and neck, in particular of the carotid bodies, occur sporadically and also in a familial setting. In addition to mutations in RET and VHL in familial disease, germline mutations in SDHD and SDHB genes that encode subunits of mitochondrial complex II have also been associated with the development of familial phaeochromocytomas. To further investigate the role of SDHD and SDHB in the development of these tumours we determined the occurrence of germline SDHD and SDHB mutations in four patients with a family history of phaeochromocytoma with associated head and neck paraganglioma, one patient with a family history of phaeochromocytoma only and two patients with apparently sporadic extra-adrenal phaeochromocytoma, one of whom had early onset disease. Secondly, we investigated whether somatic SDHB mutations correlated with loss of heterozygosity at 1p36 in a subgroup of 11 sporadic and three MEN 2-associated RET-mutation-positive phaeochromocytomas. Novel SDHB mutations were identified in the probands from four families and two apparently sporadic cases (six of seven probands studied), including two missense mutations, a single nonsense and frameshift mutation, as well as two splice site mutations, one of which was shown to have partial penetrance resulting in 'leaky' splicing. Further, five intronic polymorphisms in SDHB were found. No SDHD mutations were identified. In addition, no somatic SDHB mutations were found in the remaining allele of the 11 sporadic adrenal phaeochromocytomas with allelic loss at 1p36 or the three MEN 2-associated RET-mutation-positive phaeochromocytomas. Therefore, we conclude that SDHB has a major role in the pathogenesis of familial phaeochromocytomas, but the possible role of SDHB in sporadic tumours showing allelic loss at 1p36 has yet to be ascertained.

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  • Despite ubiquitous SDH expression, germline mutations in SDH subunits cause cancer only at a few sites, including paraganglioma, pheochromocytoma, and gastrointestinal stromal tumors.

    “Despite ubiquitous expression of the metabolic enzyme succinate dehydrogenase (SDH), germline mutations in subunits of this complex cause cancer only in a few sites, including neuroendocrine tissues (paraganglioma), the adrenal gland (pheochromocytoma), and the stomach and small intestine (gastrointestinal stromal tumors) (8–10).”

    From Metabolic reprogramming and cancer progression (2020) · cites this paper as [9]

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Authors
Benn, D. E., Croxson, M. S., Tucker, K., Bambach, C. P., Richardson, A. L., Delbridge, L., Pullan, P. T., Hammond, J., Marsh, D. J., & Robinson, B. G.
Affiliations
  • The University of Sydney (AU)
  • Auckland City Hospital (NZ)
  • UNSW Sydney (AU)
  • Royal North Shore Hospital (AU)
  • The University of Western Australia (AU)
Corresponding author
  • Marsh, Deborah J
  • Robinson, Bruce G
ORCID
Venue
Oncogene
Publisher
Springer Science and Business Media LLC
Published
2003-03-05
Volume
22
Issue
9
Pages
1358-1364
ISSN
  • 0950-9232 (ISSN-L)
  • 1476-5594
DOI
10.1038/sj.onc.1206300
OpenAlex
W1972330784
Cited by
108
References
23
Citations by year
2026: 1 · 2025: 1 · 2024: 2 · 2023: 1 · 2021: 3 · 2020: 1 · 2019: 1 · 2018: 5 · 2017: 3 · 2016: 2 · 2015: 1 · 2014: 4 · 2013: 2 · 2012: 7
FWCI
13.42
Type
journal article
Language
en
Open access
closed
Licence
Locations
  • Oncogene (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Health Sciences › Medicine › Surgery › Adrenal and Paraganglionic Tumors
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
  • Health Sciences › Medicine › Neurology › Neurofibromatosis and Schwannoma Cases
Keywords
succinate dehydrogenase subunit B, SDHB mutation, pheochromocytoma, paraganglioma, SDHD, succinate dehydrogenase, germline mutations, somatic mutations, loss of heterozygosity, 1p36, RET mutations, splice site mutation, intronic polymorphism, penetrance
MeSH terms
Adolescent, Adrenal Gland Neoplasms, Adult, Australia, Child, Chromosomes, Human, Pair 1, DNA Mutational Analysis, DNA, Neoplasm, Head and Neck Neoplasms, Humans, Introns, Iron-Sulfur Proteins, Male, Middle Aged, Multienzyme Complexes, Neoplasm Proteins, Multiple Endocrine Neoplasia, Neoplastic Syndromes, Hereditary, Oxidoreductases, Paraganglioma, Pedigree, Pheochromocytoma, Retroperitoneal Neoplasms, Succinate Dehydrogenase, Frameshift Mutation, Age of Onset, Germ-Line Mutation, Loss of Heterozygosity, Mutation, Missense, Protein Subunits, RNA Splice Sites, Electron Transport Complex II

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