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Published on: January 17, 2018
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Pheochromocytomas in Multiple Endocrine Neoplasia Type 2
Venessa H M Tsang1,2, Lyndal J Tacon3,4, Diana L Learoyd3,4
1Sydney Medical School, University of Sydney, Sydney, NSW, 2006, Australia. venessa.tsang@sydney.edu.au.
Summary
Pheochromocytoma (PC) is a rare adrenal tumor. Early diagnosis and surgical treatment, often with novel imaging and minimally invasive techniques, are crucial for managing this neuroendocrine tumor.
Area of Science:
- Endocrinology
- Oncology
- Genetics
Background:
- Pheochromocytoma (PC) is a neuroendocrine tumor from adrenal medulla chromaffin cells.
- Catecholamine excess can cause hemodynamic instability.
- Over 30% of PCs are linked to germline mutations, notably RET mutations in Multiple Endocrine Neoplasia type 2 (MEN2).
Purpose of the Study:
- To provide a comprehensive overview of pheochromocytoma.
- To discuss diagnostic and therapeutic advancements.
- To highlight the genetic associations and clinical characteristics of MEN2-associated PC.
Main Methods:
- Review of clinical presentation, diagnosis, and treatment of PC.
- Integration of conventional and novel imaging modalities (e.g., 123I-MIBG, CT, MRI, FDG-PET, 68Ga DOTATATE PET).
- Discussion of surgical approaches and peri-operative management.
Main Results:
- MEN2-associated PCs are often epinephrine-secreting, bilateral, and less malignant than sporadic PCs.
- Advanced imaging techniques improve diagnostic accuracy.
- Minimally invasive surgery and lifelong surveillance are key management strategies.
Conclusions:
- Accurate diagnosis and tailored treatment, including surgical intervention and peri-operative blockade, are essential for PC management.
- Genetic testing is important for identifying MEN2-associated risks.
- Lifelong surveillance is necessary due to the risk of metastatic disease.
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