| Genetic syndrome | Gene | Features | Risk (%) ofphaeochromocytoma62 | Histopathology ofphaeochromocytoma | Follow-up aftermolecular confirmation |
| von Hippel–LindauSyndrome | VHL | CNS haemangioblastomaRenal cell cancer (adults)Pancreatic and renal cystsRetinal angiomasIf mutation analysis is negative, consider ophthalmology opinion and MRI of the brain | 10–20 | Thick and vascular tumour capsuleMyxoid and hyalinised stromaRound, small to medium tumour cells intermixed with small vesselsAmphiphilic clear cytoplasmAbsence of cytoplasmic hyaline globulesLack of nuclear atypia or mitosesNoradrenergic phenotypeIncreased bilaterality and extra-adrenal location44 45 | Annual history, BP and examinationFrom 5 years annually:Ophthalmology reviewUrine catecholaminesUS of kidneys and adrenals (MRI 3 yearly)+From 10 years:3 yearly MRI of brain and spinal cord60 |
| Multiple endocrineneoplasiaType 2A | RET | Medullary thyroid cancerHyperparathyroidismHirschsprung’s diseaseCutaneous lichen amyloidosis | >50 | Bilateral, symmetrical metachronous phaeochromocytomasDiffuse and nodular adrenal medullary hyperplasiaUsually benign47 | Prophylactic thyroidectomy2A 2–5 years2B <1 yearCalcitonin 6 monthly(± CEA levels)AnnuallyCalcium and PTH (2A)Urinary catecholamines and BPAdrenal US3 yearlyAdrenal MRI560 |
| Type 2B | RET | Medullary thyroid cancerMarfanoid habitusGanglioneuromatosis of the bowelNeuromas of tongue and lipsConjunctiva nerve hyperplasia | 50 | ||
| Familial paraganglioma | SDHB | Head and neck paraganglioma: functional and non-functional phaeochromocytoma | 20 | Increased risk of malignant behaviourIncreased extra-adrenal location | From 5 years:Annual urinary catecholaminesBP+From 7 years:Annual abdominal MRI3 yearly abdominal and thoracic MRIFrom 20 years:3 yearly MRI of neck |
| SDHD | Head and neck paraganglioma: functional and non-functional phaeochromocytomaParent of origin effect (tumour develops when paternally inherited) | Increased extra-adrenal location (especially head and neck)Multifocal tumours | From 5 years:Annual urinary catecholamines and BPFrom 7 years:2 yearly abdominal MRI including thorax every 5 yearsFrom 20 years:1-2 yearly MRI of neck61 (E R Maher, personal communication) | ||
| Neurofibromatosis type 1 | NF1 | Café-au-lait patches, axillary freckling, dermal neurofibromas, macrocephaly, Lisch nodules | 1 | No specific histological changes | From diagnosis:Annual clinical review including BPAnnual ophthalmology review62 |
BP, blood pressure; CEA, carcinoembryonic antigen; CNS, central nervous system; PTH, parathyroid hormone; US, ultrasound.