Endocrine Abstracts (2012) 28 S10.1

Genetics and epidemiology of phaeochromocytoma/paraganglioma

Eamonn Maher


Centre for Rare Diseases and Personalised Medicine, University of Birmingham, Birmingham, United Kingdom.


Phaeochromocytoma is a rare, usually benign, tumour predominantly managed by endocrinologists. Over the last decade, major advances have been made in understanding the molecular genetic basis of adrenal and extra-adrenal phaeochromocytoma (also referred to as adrenal phaeochromocytoma (aPCA) and extra-adrenal functional paraganglioma (eFPGL)). In contrast to the previously held belief that only 10% of cases had a genetic component, currently about one third of all aPCA/eFPGL cases are thought to be attributable to germline mutations in at least nine genes (NF1, RET, SDHA, SDHB, SDHC, SDHD, TMEM127, MAX, and VHL). Recognition of inherited cases of aPCA/eFPGL is critical for optimal patient management. Thus, the identification of a germline mutation can predict risks of malignancy, recurrent disease, associated non-chromaffin tumours, and risks to other family members. Mutation carriers should be offered specific surveillance programmes (specific to the gene involved) to reduce morbidity and mortality. I will review current status of the geneitics of aPCA/eFPGL and its relevance to the epidemiology and clinical management.

Declaration of interest: There is no conflict of interest that could be perceived as prejudicing the impartiality of the research reported.

Funding: No specific grant from any funding agency in the public, commercial or not-for-profit sector.

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