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J Neurol Surg B Skull Base
DOI: 10.1055/a-2607-5611
Original Article

Rates of Hereditary Paraganglioma Syndromes and Secretory Head and Neck Paragangliomas: A Single-Institution Experience

Rance J.T. Fujiwara
1   Department of Otolaryngology—Head and Neck Surgery, UT Southwestern Medical Center, Dallas, Texas, United States
,
Hitomi Sakano
1   Department of Otolaryngology—Head and Neck Surgery, UT Southwestern Medical Center, Dallas, Texas, United States
,
Daniel E. Killeen 
1   Department of Otolaryngology—Head and Neck Surgery, UT Southwestern Medical Center, Dallas, Texas, United States
,
J. Walter Kutz
1   Department of Otolaryngology—Head and Neck Surgery, UT Southwestern Medical Center, Dallas, Texas, United States
,
Brandon Isaacson
1   Department of Otolaryngology—Head and Neck Surgery, UT Southwestern Medical Center, Dallas, Texas, United States
› Author Affiliations
Funding None.
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Abstract

Objective

This study aimed to characterize the rate of secretory tumors and the rate and types of genetic variations identified in patients diagnosed with head and neck (HN) paragangliomas.

Study Design

A retrospective case review.

Setting

Tertiary referral center.

Participants

About 74 patients with HN paragangliomas treated with gamma knife radiosurgery.

Main Outcome Measures

Genetics testing via the Ambry Genetics Hereditary Paraganglioma and Pheochromocytoma Panel, and 24-hour urine metanephrine and catecholamine levels, were obtained. Pathogenic and likely pathogenic variations were tabulated. Levels of 24-hour urinary epinenephrine, norepinephrine, metanephrine, normetanephrine, and dopamine were recorded and correlated with rates of genetic variations.

Results

Of 74 patients, 46 (62.2%) and 38 (51.4%) underwent laboratory and genetics testing, respectively; 29 (39.2%) completed both. Nine (19.6%) had abnormally elevated 24-hour urine metanephrine/catecholamine, of whom eight (88.9%) had elevated normetanephrine levels. Pathogenic/likely pathogenic variations were found in 15/38 (39.5%) patients. Among those with both genetics and laboratory testing, 4/12 (33.3%) with a pathogenic variation had evidence of secretory tumors, compared with 1/17 (5.9%) of those without a variation. Conversely, 80% (4/5) of patients with abnormally elevated metanephrine or catecholamine studies had a pathogenic genetic variation, compared with 33.3% (8/24) with normal laboratory results.

Conclusion

This is a single-institution cohort with HN paragangliomas who underwent genetic testing and urine catecholamine and metanephrine studies. We demonstrate that a large fraction of patients presenting with HN paragangliomas have pathogenic genetic variations and secreting tumors. Genetic testing and counseling, and laboratory studies, should thus be performed in patients diagnosed with HN paragangliomas.

Keywords

head and neck paraganglioma - genetic testing - catecholamine - metanephrine

Previous Presentation

This manuscript was presented as a scientific oral presentation at the AAO-HNSF 2024 Annual Meeting and OTO Experience, Miami, FL, September 28–October 1, 2024.




Publication History

Received: 22 December 2024

Accepted: 12 May 2025

Article published online:
26 May 2025

© 2025. Thieme. All rights reserved.

Georg Thieme Verlag KG
Oswald-Hesse-Straße 50, 70469 Stuttgart, Germany

 

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