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SDH-mutated paraganglioma

Saturday 9 February 2019

Images : SDH-mutated paraganglioma

Genetics

- Germline mutations in three of the succinate dehydrogenase (SDH, mitochondrial complex II) subunits (SDHD, SDHB and SDHC) cause susceptibility to head and neck paragangliomas, and may be found in approximately 20% of unselected patients.
- In addition, germline SDHD and SDHB mutations may cause phaeochromocytoma susceptibility with or without associated head and neck paragangliomas.
- Recent studies suggest that germline SDHD and SDHB mutations are an important cause of familial and isolated phaeochromocytoma. (dysregulation of hypoxia-responsive genes and impairment of mitochondria-mediated apoptosis)

See also

- SDH / succinate dehydrogenase
- paraganglioma