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Phaeochromocytoma and Paraganglioma
P T Kavinga Gunawardane1,2, Ashley Grossman3
1Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK.
Advances in Experimental Medicine and Biology
|November 27, 2016
Summary
Phaeochromocytomas and paragangliomas are rare tumors often presenting as hypertension or incidental findings. Germline mutations are increasingly recognized as a cause, impacting diagnosis and treatment.
Area of Science:
- Endocrinology
- Oncology
- Genetics
Background:
- Phaeochromocytomas and paragangliomas are rare neuroendocrine tumors.
- They can present with diverse symptoms including hypertension, palpitations, and anxiety, or be found incidentally.
- A growing number are linked to inherited germline mutations.
Purpose of the Study:
- To review the diagnosis of phaeochromocytomas and paragangliomas.
- To discuss the biochemical aspects of these tumors.
- To outline current treatment strategies for these rare tumors.
Main Methods:
- Literature review focusing on diagnosis, biochemistry, and treatment.
- Analysis of recent studies on germline mutations.
- Synthesis of clinical information on tumor presentation and management.
Main Results:
- Tumors present variably, including sustained/paroxysmal hypertension and incidental findings.
- Germline mutations are an increasingly identified cause.
- Diagnosis, biochemical evaluation, and treatment are key aspects.
Conclusions:
- Understanding the diverse presentations and genetic underpinnings is crucial.
- Accurate diagnosis and biochemical assessment guide management.
- Effective treatment strategies are available for these tumors.
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