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Hereditary head and neck paraganglioma: from basics to practical consequences
Mihnea Cristian Trache1, Arne Böttcher, Christian Stephan Betz
1Department of Otorhinolaryngology, Skull Base Center, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Current Opinion in Otolaryngology & Head and Neck Surgery
|March 13, 2023
Summary
Hereditary head and neck paragangliomas require genetic testing for early detection and management. Treatment strategies are evolving, prioritizing function preservation and minimizing complications, especially in genetically predisposed individuals.
Area of Science:
- Endocrinology
- Oncology
- Genetics
Background:
- Hereditary head and neck paragangliomas represent a significant proportion (33-50%) of all cases.
- Specific genetic alterations are linked to an increased risk of malignancy.
Approach:
- Genotyping is recommended for all patients diagnosed with head and neck paragangliomas.
- Regular screening for new tumors is advised for patients with identified pathological mutations.
- Advanced imaging techniques like CT, MRI, DSA, and PET aid in preoperative diagnosis.
Key Points:
- Radiation, stereotactic radiosurgery, and active surveillance are increasingly preferred over surgery for advanced jugulotympanic and vagal paragangliomas.
- Surgery remains the primary treatment for most carotid body paragangliomas.
- Therapeutic decisions must balance complete tumor removal with acceptable morbidity and cranial nerve function preservation.
Conclusions:
- Complete tumor removal is the goal, but alternative strategies are necessary when morbidity is a concern.
- Management of genetically predisposed patients requires careful consideration of tumor and treatment-associated complications.
- An interdisciplinary approach is crucial for optimal management of hereditary head and neck paragangliomas.
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