Urinary free (unconjugated) metadrenalines in different hereditary forms of catecholamine-secreting phaeochromocytoma/paraganglioma

Davidson, D. F., Bradshaw, N., Perry, C. G., Lindsay, R. and Freel, E. M. (2012) Urinary free (unconjugated) metadrenalines in different hereditary forms of catecholamine-secreting phaeochromocytoma/paraganglioma. Annals of Clinical Biochemistry, 49(5), pp. 486-490. (doi: 10.1258/acb.2012.012021)

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Publisher's URL: http://dx.doi.org/10.1258/acb.2012.012021

Abstract

<b>Background</b> Catecholamine-producing neuroendocrine tumours are found in chromaffin cells of the adrenal medulla (phaeochromocytoma) or extra-adrenal paraganglia (paraganglioma), known collectively as PPGLs. In approximately a quarter or more of cases of PPGL, these rare tumours arise as a result of germline mutations of several tumour susceptibility genes. At the Crosshouse laboratory, urine tests include free metadrenalines (fMAs) (also known as free metanephrines) which demonstrate superior sensitivity over that obtained by urinary vanillyl mandelic acid, catecholamines or plasma catecholamines in the diagnosis of PPGL. This retrospective audit was to determine if urinary fMAs offered discrimination among the hereditary forms of PPGL.<p></p> <b>Methods</b> Retrospective biochemical and genetic data were gathered from 1997 to 2011. The identified urine specimens were those obtained at the time of first diagnosis or recurrence of PPGL. Results of catecholamines and metabolites were standardized as multiples of their respective relevant upper reference limits (URLs).<p></p> <b>Results</b> Results were available for 29 affected patients (15 females and 14 males), median age 26 (range 9–63) years, comprising three mutation groups: succinate dehydrogenase subunit B or D ([SDHB/D] 16 patients), multiple endocrine neoplasia type 2 ([MEN 2] 6 patients) and von Hippel–Lindau disease ([VHL] 7 patients). The parent catecholamines exhibited increased values for noradrenaline (NA) and/or adrenaline (AD) for 25/29 (86.2%) patients. Either or both free normetadrenaline (fNMA) and fMA were elevated in 29/29 (100%) patients.<p></p> <b>Conclusions</b> The ratio of the multiples of URL for fMA/fNMA displayed a clearer separation of MEN 2 patients from those with SDHB/D or VHL than did the equivalent AD/NA ratio.<p></p>

Item Type:Articles
Status:Published
Refereed:Yes
Glasgow Author(s) Enlighten ID:Freel, Dr Marie and Lindsay, Dr Robert and Perry, Dr Colin
Authors: Davidson, D. F., Bradshaw, N., Perry, C. G., Lindsay, R., and Freel, E. M.
Subjects:R Medicine > R Medicine (General)
College/School:College of Medical Veterinary and Life Sciences > Institute of Cardiovascular and Medical Sciences
Journal Name:Annals of Clinical Biochemistry
Publisher:Sage
ISSN:0004-5632
ISSN (Online):1758-1001
Published Online:22 August 2012
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Project CodeAward NoProject NamePrincipal InvestigatorFunder's NameFunder RefLead Dept
496251Translational studies on the role of corticosteroids in cardiovascular diseaseMarie FreelMedical Research Council (MRC)G0802803RI CARDIOVASCULAR & MEDICAL SCIENCES
496252Translational studies on the role of corticosteroids in cardiovascular diseaseMarie FreelMedical Research Council (MRC)G0802803RI CARDIOVASCULAR & MEDICAL SCIENCES