Abstract | BACKGROUND:
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. METHODS: 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). RESULTS: CONCLUSIONS: 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.
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Authors | D Fraser Davidson, Nicola Bradshaw, Colin G Perry, Robert Lindsay, E Marie Freel |
Journal | Annals of clinical biochemistry
(Ann Clin Biochem)
Vol. 49
Issue Pt 5
Pg. 486-90
(Sep 2012)
ISSN: 1758-1001 [Electronic] England |
PMID | 22914444
(Publication Type: Journal Article)
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Chemical References |
- Catecholamines
- Metanephrine
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Topics |
- Adolescent
- Adrenal Gland Neoplasms
(genetics, urine)
- Adult
- Catecholamines
(urine)
- Child
- Clinical Chemistry Tests
- Female
- Humans
- Male
- Metanephrine
(urine)
- Middle Aged
- Paraganglioma
(genetics, urine)
- Pheochromocytoma
(genetics, urine)
- Recurrence
- Retrospective Studies
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