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Updated: Jan 11, 2026
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Succinate Dehydrogenase Pathogenic Variants Among Older Adults With Head and Neck Paragangliomas
Nikhil Bellamkonda1, Anne Naumer2, Luke O Buchmann1
1Department of Otolaryngology - Head and Neck Surgery Huntsman Cancer Institute, University of Utah Salt Lake City Utah USA.
Introduction:
The objective of this study was to determine the proportion of patients over the age of 50 who have HNPGL related to an SDH PV.
Methods:
Patients seen at a single, tertiary-care academic medical center diagnosed with a new HNPGL over the age of 50 were included and analyzed.
Results:
One hundred and eleven individuals (155 tumors) were included. Eighty (72%) patients underwent genetic testing. Twenty-one PVs of known significance were identified (SDHA in 1, SDHB in 11, SDHC in 5, SDHD in 3, and FH in 1). The rate of SDH PVs in the tested group was 25%. The median age in patients with a PV was 60 years (IQR: 54-67) years, compared to 67 years (IQR: 59-71) in those without.
Conclusions:
Patients diagnosed with a HNPGL over the age of 50 are still at risk for having an SDH PV. Older patients with HNPGL and their families should still be referred for genetic testing.
Level Of Evidence:
IV.
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