Head and Neck Paragangliomas: Patterns of Otolaryngology Referrals for Genetic Testing Over 2 Decades

OTO Open. 2021 Mar 3;5(1):2473974X21995453. doi: 10.1177/2473974X21995453. eCollection 2021 Jan-Mar.


Objective: A large proportion of head and neck paragangliomas (HNPGLs) arise in patients with a genetic predisposition due to pathogenic variants in succinate dehydrogenase (SDHx) genes. Contemporary practice guidelines recommend consideration of referral for genetic testing for all patients with HNPGLs. We sought to assess adherence to these recommendations, factors associated with referral, and temporal trends in referral patterns by otolaryngologists over the past 2 decades.

Study design: Retrospective cohort study.

Setting: Single tertiary care center.

Methods: All patients with newly diagnosed HNPGLs treated at a single academic center between 2000 and 2019 were included. Bivariable association of specific features of referral for genetic testing by treating surgeons were tested with χ2 and Wilcoxon rank-sum tests. Logistic regression was used to assess temporal trends in referral patterns overall and for specific clinical subgroups over time.

Results: Of 221 patients included, only 77 (34.8%) were referred for genetic testing. Factors associated with referral included young age, family history of paraganglioma, more recent year of diagnosis (ie, closer to study end date), tumor subsite (all P < .0001), and treatment by an otolaryngologist (vs vascular surgeon or neurosurgeon, P = .009). Overall, referral rates increased over time (P = .0002), but even in the most recent 5 years, only 51% of newly diagnosed patients were referred.

Conclusion: Our analysis suggests that referral rates for genetic testing in patients with HNPGLs are growing yet are still largely based on young age, family history, and tumor subsite.

Keywords: genetic testing; head and neck; paraganglioma; succinate dehydrogenase.