title: Diagnosis and Management of Hereditary Phaeochromocytoma and Paraganglioma.
abstract: About 30% of phaeochromocytomas or paragangliomas are genetic. Whilst some individuals will have clinical features or a family history of inherited cancer syndrome such as neurofibromatosis type 1 (NF1) or multiple endocrine neoplasia 2 (MEN2), the majority will present as an isolated case. To date, 14 genes have been described in which pathogenic mutations have been demonstrated to cause paraganglioma or phaeochromocytoma . Many cases with a pathogenic mutation may be at risk of developing further tumours. Therefore, identification of genetic cases is important in the long-term management of these individuals, ensuring that they are entered into a surveillance programme. Mutation testing also facilitates cascade testing within the family, allowing identification of other at-risk individuals. Many algorithms have been described to facilitate cost-effective genetic testing sequentially of these genes, with phenotypically driven pathways. New genetic technologies including next-generation sequencing and whole-exome sequencing will allow much quicker, cheaper and extensive testing of individuals in whom a genetic aetiology is suspected.
authors.affiliation: Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK. fiona.lalloo@cmft.nhs.uk.
authors.forename: Fiona
authors.initials: F
authors.lastname: Lalloo
mesh_terms: D000310:Adrenal Gland Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D010235:Paraganglioma / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D010673:Pheochromocytoma / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*
keywords: Paraganglioma; Phaeochromocytoma