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Surgical Treatment of an Endolymphatic Sac Tumor
Published on: May 26, 2023
Systematic screening and treatment evaluation of hereditary neck paragangliomas
John H Fish1, Peter Klein-Weigel, Matthias Biebl
1Department of Vascular Surgery, Innsbruck Medical University, Innsbruck, Tyrol, Austria. john.fish@aurora.org
Abstract:
Familial paragangliomas of the neck are often bilateral and more aggressive than spontaneous forms. Tumors appear earlier (2nd-4th decade) often with diffuse, multifocal involvement. Without treatment, these tumors can lead to significant morbidity. Three families with succinate dehydrogenase subunit D (SDHD) germline mutations underwent clinical and genetic evaluation. Patients were screened using ultrasound and evaluated further with conventional and functional imaging. Tumors with a diameter >1.5 cm were surgically removed. Multicentric and bilateral tumors were detected in 9/13 (69%) and 8/13 (62%) patients, respectively. Surgical morbidity occurred in 64% of patients. Local recurrence was 57%, although this was lower in tumors with a diameter <2 cm. We recommend an algorithm for a systematic approach to the diagnosis, monitoring, and treatment of familial head and neck paragangliomas. Operative treatment in advanced stages often leads to unwanted morbidity, such that earlier detection and treatment of smaller tumors seems to be of benefit.
Insights
Familial head and neck paragangliomas, often linked to SDHD mutations, present challenges due to early onset and multifocal nature. Early detection and treatment of smaller tumors are crucial to minimize surgical morbidity and recurrence.
Area of Science:
- Endocrinology
- Genetics
- Oncology
Background:
- Familial paragangliomas of the neck are frequently bilateral, aggressive, and manifest earlier than sporadic forms.
- These tumors can cause significant morbidity if left untreated.
- Succinate dehydrogenase subunit D (SDHD) germline mutations are associated with familial paragangliomas.
Purpose of the Study:
- To evaluate clinical and genetic findings in three families with SDHD mutations.
- To establish an algorithm for diagnosis, monitoring, and treatment of familial head and neck paragangliomas.
- To assess the impact of tumor size on surgical morbidity and recurrence.
Main Methods:
- Clinical and genetic evaluation of three families with SDHD germline mutations.
- Screening using ultrasound and further evaluation with conventional and functional imaging.
- Surgical removal of tumors >1.5 cm in diameter.
Main Results:
- Multicentric and bilateral tumors were found in 69% and 62% of patients, respectively.
- Surgical morbidity occurred in 64% of patients.
- Local recurrence rate was 57%, but lower for tumors <2 cm.
Conclusions:
- Familial head and neck paragangliomas require a systematic diagnostic and treatment approach.
- Early detection and treatment of smaller tumors (<2 cm) can reduce surgical morbidity and local recurrence.
- An algorithm for managing these tumors is recommended.