Paragangliomas are rare tumours derived from the autonomic nervous system that have increasingly been recognised to have a genetic predisposition. Mutations of the enzyme succinyl dehydrogenase (SDH) have proven to result in paraganglioma formation. There are four subunits (A through D) that form the enzyme complex and are associated with different genophenotypic expressions of disease. SDHB and SDHD mutations are more common, whereas SDHA and SDHC mutations are rare. Patients with SDHB mutations are prone to extra-adrenal pheochromocytomas, malignant disease and extra-paraganglial neoplasia, whereas SDHD mutations have a greater propensity for multiple, benign head and neck paragangliomas.
Diagnosis of a sporadic paraganglioma or pheochromocytoma should lead to a full genetic workup of the patient and family if SDH mutations are found.
Further annual screening will be required depending on the mutation, which can have a significant impact on radiologists and the resources of the radiology department.
We present our imaging experience with a series of patients with proven SDH mutations resulting in paragangliomas with a review of the literature.
Lack EE (1994) Paraganglioma. In: Sternberg SS (ed) Diagnostic Surgical Pathology, 2nd edn. Raven Press, New York, NY, pp 599–621
Rosai J (1996) Ackermans’s surgical pathology, 8th edn. Mosby, New York, p 1015
Taschner PE, Jansen JC, Baysal BE, et al. (2001) Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene. Genes Chromosomes Cancer 274–281
Timmers HJ, Gimenez-Roqueplo AP, Mannelli M et al (2009) Clinical aspects of SDHx-related pheochromocytoma and paraganglioma. Endocrine –Related. Cancer 16:391–400
Van der Mey AG, Maaswinkel-Mooy PD, Cornelisse CJ et al (1989) Genomic imprinting in hereditary glomus tumours: Evidence for new genetic theory. Lancet 2:1291–1294 PubMed
Neuman HP, Pawlu C, Peczkowska M et al (2004) Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. JAMA 292(8):943–952 CrossRef
- Clinicoradiological manifestations of paraganglioma syndromes associated with succinyl dehydrogenase enzyme mutation
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