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CC BY 4.0 · J Neurol Surg B Skull Base
DOI: 10.1055/s-0044-1781438
Original Article

Optimal Screening for Hereditary Head and Neck Paraganglioma in Asymptomatic SDHx Variant Carriers in the Netherlands

Anouk Frederique Heesters
1   Department of Otorhinolaryngology, Leiden University Medical Centre, Leiden, The Netherlands
,
Carli Tops
2   Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands
,
Thomas Potjer
2   Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands
,
Eleonora P.M. Corssmit
3   Department of Endocrinology, Leiden University Medical Centre, Leiden, The Netherlands
,
Jean-Pierre Bayley
4   Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands
,
Erik Hensen
1   Department of Otorhinolaryngology, Leiden University Medical Centre, Leiden, The Netherlands
,
Jeroen Jansen
1   Department of Otorhinolaryngology, Leiden University Medical Centre, Leiden, The Netherlands
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Abstract

Background SDHx variant carriers have an increased risk of developing head and neck paraganglioma. The Dutch guidelines state that these patients require lifelong follow-up, but no clear recommendation is made about the frequency of screening.

Objective To determine the annual risk of developing head and neck paraganglioma in SDHx variant carriers after a negative initial screening.

Methods We conducted a retrospective single-center cohort study in the Netherlands that included 49 SDHA, SDHB, and SDHD variant carriers with a negative first screening and at least one follow-up. The main outcome measure was the annual risk of developing a paraganglioma for the SDHx variants separately.

Results Between 2000 and 2022, nine patients developed a paraganglioma all of whom were carriers of a SDHD variant (n = 23). Neither the 24 SDHB-related cases nor the 2 SDHA variant carriers developed a paraganglioma after a median of 4.83 and 5.92 years of follow-up, respectively.

Conclusion The 5-year risk for head and neck paragangliomas in pathological SDHx variant carriers is less than 20%. A 5-year interval for screening SDHx carriers seems sufficient to prevent the unnoticed development of head and neck paragangliomas that warrant treatment.

Keywords

paraganglioma - hereditary - SDHA - SDHB - SDHD - screening


Publication History

Received: 23 November 2023

Accepted: 23 January 2024

Article published online:
01 March 2024

© 2024. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

Georg Thieme Verlag KG
Stuttgart · New York

 

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