Long-term single centre outcome of phaeochromocytoma/paraganglioma
Huda Al-Kutubi1, Joanne Greenwood2, Maneesh Udiawar2, Atul Kalhan2, David Scott-Coombes2 & Aled Rees1
Background: Phaeochromocytomas (PHAEOs) and paragangliomas (PGLs) are rare catecholamine producing tumours which are potentially lethal if left untreated and may be associated with a wide variety of complications. Optimum management demands multidisciplinary input from endocrinologists, biochemists, geneticists and endocrine surgeons.
Objective: A retrospective audit into the management of PHAEOs/PGLs at our institution against the 2005 recommendations made at the 1st International Symposium.
Methods: Data were collected on all patients who had presented to the endocrine department with a diagnosis of PHAEO or PGL over a 12 year period (19972009). This was cross-checked with a biochemistry database capturing all patients with raised urinary catecholamines and/or metadrenalines.
Results: Fifty-nine patients with a confirmed diagnosis of PHAEO (48 unilateral, 6 bilateral) or PGL (5) were identified. Biochemistry (post-2003: 24 h urine for fractionated metadrenalines (metadrenaline and normetadrenaline) plus catecholamines (adrenaline, noradrenaline and dopamine) if ≥ top 25% of the reference range; pre-2003: various methods) demonstrated elevation of at least one fractionated metabolite in all subjects bar 1 at presentation. Localisation studies included a combination of CT (60%), MRI (42%) and 123I-MIBG (64%). 30% of patients were found to harbour a mutation in a susceptibility gene (8% VHL, 8% MEN2A, 7% NF1, 7% SDHB/D); of the remaining 41 subjects, genetic testing was indicated in 37% but only undertaken in half of these. All patients were treated surgically (84% laparoscopic since 2004) with low morbidity and mortality (<2%); preoperative adrenergic blockade was undertaken in all.
Conclusions: Biochemical screening using fractionated urinary metadrenalines provides a high diagnostic sensitivity for PHAEO and PGL. Functional imaging is used selectively in our institution but surgical outcome is good. Genetic testing reveals a relatively high rate of inherited endocrine tumour syndromes but is under-requested in a small minority of cases.