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Insights into Imaging

, Volume 2, Issue 4, pp 431–438

First Online: 22 April 2011Received: 15 November 2010Revised: 16 March 2011Accepted: 04 April 2011

Abstract

BackgroundParagangliomas 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.

MethodsDiagnosis of a sporadic paraganglioma or pheochromocytoma should lead to a full genetic workup of the patient and family if SDH mutations are found.

ResultsFurther annual screening will be required depending on the mutation, which can have a significant impact on radiologists and the resources of the radiology department.

ConclusionWe present our imaging experience with a series of patients with proven SDH mutations resulting in paragangliomas with a review of the literature.

KeywordsParagangliomas Imaging Succinyl Dehydrogenase Mutations  Download fulltext PDF



Author: Brendan Barber - Mark Ingram - Sameer Khan - Gul Bano - Shirley Hodgson - Ioannis Vlahos

Source: https://link.springer.com/







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