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Pheochromocytoma: a changing perspective and current concepts
Andreas Kiriakopoulos1, Periklis Giannakis2, Evangelos Menenakos2
1Department of Surgery, 'Evgenidion Hospital', National and Kapodistrian University of Athens School of Medicine, 5th Surgical Clinic, Papadiamantopoulou 20 Str, PO: 11528, Athens 11528, Greece.
Therapeutic Advances in Endocrinology and Metabolism
|November 2, 2023
Summary
Personalized genetic testing and advanced diagnostics are crucial for timely pheochromocytoma and paraganglioma (PPGL) diagnosis. Management involves surgery, chemotherapy, or radionuclides, emphasizing a multidisciplinary and personalized approach.
Area of Science:
- Endocrinology
- Oncology
- Genetics
Background:
- Pheochromocytoma and paraganglioma (PPGL) present variably, often lacking classic symptoms, necessitating advanced diagnostic strategies.
- Genetic mutations account for 40-60% of PPGL cases, highlighting the importance of personalized genetic testing.
- Catecholamine excess and mass effects are primary drivers of PPGL symptoms, impacting the cardiovascular system.
Purpose of the Study:
- To review current concepts in the diagnosis and management of pheochromocytoma and paraganglioma (PPGL).
- To emphasize the role of personalized genetic testing and advanced molecular markers in PPGL workup.
- To outline optimal diagnostic and therapeutic strategies for PPGL, including imaging and treatment modalities.
Main Methods:
- Review of current literature on PPGL diagnosis and management.
- Analysis of diagnostic techniques including genetic testing, next-generation sequencing, metabolomics, and NETest.
- Evaluation of imaging modalities such as CT, PET/CT, and radionuclide scans.
- Assessment of treatment strategies including surgery, chemotherapy, and radionuclide therapy.
Main Results:
- Personalized genetic testing and next-generation sequencing are vital for identifying mutations and advancing knowledge.
- Free plasma/urine catecholamine metabolites measured by LC-MS/MS are first-line diagnostic tests, with personalized reference intervals.
- CT is preferred for pheochromocytoma, while functional imaging improves accuracy for extra-adrenal, malignant, or familial PPGL.
- Surgery is the primary treatment, with preoperative alpha-adrenergic blockade reducing morbidity; chemotherapy and radionuclides are used for metastatic or milder cases.
Conclusions:
- A multidisciplinary approach, precise timing, and personalized strategies are essential for successful PPGL diagnosis and management.
- Early identification of high-risk individuals and timely diagnosis using personalized methods are critical.
- Long-term surveillance is important for asymptomatic carriers and patients to monitor for recurrence or metastasis.
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