Abstract | CONTEXT:
Pheochromocytomas and paragangliomas (PPGLs) are diagnosed earlier in patients with hereditary than sporadic disease. Whether other factors influence age at diagnosis is unclear. OBJECTIVE: We examined ages at which PPGLs were diagnosed according to different catecholamine phenotypes and locations of tumors. DESIGN & SETTING: Retrospective multicenter study. PATIENTS: Patients with PPGLs included 172 with and 183 without identified germline mutations or hereditary syndromes. BIOCHEMICAL MEASUREMENTS: Differences in plasma concentrations of metanephrine, a metabolite of epinephrine, were used to distinguish epinephrine-producing tumors from those lacking epinephrine production. RESULTS: CONCLUSIONS: The variations in ages at diagnosis associated with different tumor catecholamine phenotypes and locations suggest origins of PPGLs from different chromaffin progenitor cells with variable susceptibility to disease causing mutations. Different optimal age cut-offs for mutation testing are indicated for patients with and without epinephrine-producing tumors (44-49 vs. 30-35 yr, respectively).
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Authors | Graeme Eisenhofer, Henri J Timmers, Jacques W M Lenders, Stefan R Bornstein, Oliver Tiebel, Massimo Mannelli, Kathryn S King, Cathy D Vocke, W Marston Linehan, Gennady Bratslavsky, Karel Pacak |
Journal | The Journal of clinical endocrinology and metabolism
(J Clin Endocrinol Metab)
Vol. 96
Issue 2
Pg. 375-84
(Feb 2011)
ISSN: 1945-7197 [Electronic] United States |
PMID | 21147885
(Publication Type: Journal Article, Multicenter Study, Research Support, N.I.H., Intramural, Research Support, Non-U.S. Gov't)
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Chemical References |
- Catecholamines
- Metanephrine
- Succinate Dehydrogenase
- Epinephrine
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Topics |
- Adolescent
- Adrenal Gland Neoplasms
(diagnosis, metabolism, pathology)
- Adrenal Glands
(pathology)
- Adult
- Aged
- Aged, 80 and over
- Aging
(physiology)
- Catecholamines
(blood)
- Child
- Databases, Factual
- Epinephrine
(blood)
- Female
- Genetic Testing
- Humans
- Male
- Metanephrine
(blood)
- Middle Aged
- Multiple Endocrine Neoplasia Type 2a
(genetics, metabolism, pathology)
- Mutation
(physiology)
- Neurofibromatosis 2
(genetics)
- Phenotype
- Pheochromocytoma
(diagnosis, genetics, metabolism)
- Retrospective Studies
- Succinate Dehydrogenase
(genetics)
- Young Adult
- von Hippel-Lindau Disease
(genetics)
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