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Screening for pheochromocytomas and paragangliomas.
1Institute of Clinical Chemistry and Laboratory Medicine, University of Dresden, Fetscherstrasse 74, 01307, Dresden, Germany. Graeme.Eisenhofer@uniklinikum-dresden.de
Current Hypertension Reports
|January 20, 2012
Summary
Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors. Early biochemical testing of plasma or urinary metanephrines is crucial for diagnosis in symptomatic patients and those with genetic mutations.
Area of Science:
- Endocrinology
- Oncology
- Genetics
Background:
- Pheochromocytomas and paragangliomas (PPGLs) are heterogeneous neuroendocrine tumors.
- Consideration is needed in patients with hypertension, catecholamine excess, incidentalomas, or known tumor susceptibility gene mutations.
Purpose of the Study:
- To highlight the importance of considering PPGLs in diagnosis.
- To outline appropriate screening and biochemical testing strategies for PPGLs.
Main Methods:
- Review of diagnostic criteria and genetic associations for PPGLs.
- Emphasis on biochemical testing, including plasma or urinary metanephrines (normetanephrine and metanephrine).
- Discussion of individualized screening based on specific mutations and the role of methoxytyramine measurement.
Main Results:
- Biochemical testing with metanephrines is straightforward in symptomatic patients.
- Germline mutations can lead to PPGLs in the absence of typical symptoms.
- Methoxytyramine measurements aid in specific genetic contexts and malignancy risk assessment.
Conclusions:
- Prompt consideration of PPGLs is critical for timely diagnosis.
- Biochemical testing of metanephrines is a key screening tool.
- Personalized screening approaches, including methoxytyramine, improve detection, especially in genetically predisposed individuals.
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