title: The genetics of phaeochromocytoma: using clinical features to guide genetic testing.
abstract: 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 (according to the relevant gene). In this review, we will describe the genetics of aPCA/eFPGL and strategies for genetic testing.
authors: Centre for Rare Diseases and Personalised Medicine, The Medical School, Institute of Biomedical Research West, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK.
authors: Mariam
authors: M
authors: Jafri
authors: Eamonn R
authors: ER
authors: Maher
mesh_terms: D000310:Adrenal Gland Neoplasms / Q000175:diagnosis / Q000235:genetics*; D016514:Genes, Neurofibromatosis 1 / Q000502:physiology; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods*; D018095:Germ-Line Mutation; D006801:Humans; D025202:Molecular Diagnostic Techniques; D010235:Paraganglioma / Q000235:genetics; D010673:Pheochromocytoma / Q000175:diagnosis / Q000235:genetics*; D017410:Practice Guidelines as Topic; D051096:Proto-Oncogene Proteins c-ret / Q000235:genetics / Q000502:physiology; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics / Q000502:physiology
chemical_list: D051794:Von Hippel-Lindau Tumor Suppressor Protein; D051096:Proto-Oncogene Proteins c-ret; C099282:RET protein, human; C497446:VHL protein, human