ArticleOncogene2001
Germline SDHD mutation in paraganglioma of the spinal cord.
Article in Oncogene, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 49 citations in OpenAlex.
- Concurrent multiple cerebral cavernous malformations and cauda equina paraganglioma: illustrative case.Journal of neurosurgery. Case lessons · 2024Article
- The immunohistochemical, DNA methylation, and chromosomal copy number profile of cauda equina paraganglioma is distinct from extra-spinal paraganglioma.Acta neuropathologica · 2020Article
- Molecular characterization of CNS paragangliomas identifies cauda equina paragangliomas as a distinct tumor entity.Acta neuropathologica · 2020Article
- Acute onset of paraganglioma of filum terminale: A case report and surgical treatment.International journal of surgery case reports · 2017Article
- Paraganglioma of the filum terminale mimicking neurinoma: Case report.Surgical neurology international · 2016Article
- SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma-paraganglioma syndromes.Journal of internal medicine · 2009Review
- No evidence for involvement of SDHD in neuroblastoma pathogenesis.BMC cancer · 2004Article
- Hereditary paraganglioma targets diverse paraganglia.Journal of medical genetics · 2002Review
Corrections and comments
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Authors and funding
10 authors at 6 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary paraganglioma of the head and neck is associated with germline mutations in the SDHD gene, which encodes a mitochondrial respiratory chain protein. Paragangliomas of the central nervous system are very rare, occur almost exclusively in the cauda equina of the spinal cord and are considered non-familial. In the present study, we screened 22 apparently sporadic paragangliomas of the cauda equina for SDHD mutations. One spinal paraganglioma and similar cerebellar tumours that developed 22 years later in the same patient contained a missense mutation at codon 12 (GGT-->AGT, Gly-->Ser) and a silent mutation at codon 68 (AGC-->AGT, Ser-->Ser). There was no family history of paragangliomas but DNA from white blood cells of this patient showed the same sequence alterations, indicating the presence of a germline mutation. All other cases of spinal paraganglioma had the wild-type SDHD sequence, except one case with a silent mutation at codon 68 (AGC-->AGT, Ser-->Ser). This is the first observation indicating that inherited SDHD mutations may occasionally cause the development of paragangliomas in the central nervous system.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.