(0652) Genetic Mutation Affects Numbers of Tumors in Head and Neck Paragangliomas

Introduction: Head and neck paragangliomas are rare neuroendocrine tumors that affect approximately 1-8 in 1 million people. These tumors can arise in the setting of gene mutations, with multiple succinate dehydrogenase enzymes identified as potentiators of paragangliomas.

Methods: This was a retrospective chart review of a single institution. In total, 176 patients were identified with a head and neck paraganglioma diagnosed between 1974 and 2023. Patients with single tumors and multiple tumors were compared with the intention of understanding a possible genetic predisposition to multiple tumors.

Results: There were 137 patients with a single primary tumor and 39 patients with multiple primary tumors. The average age of the patients was significantly lower in patients with multiple tumors (37.2 ± 16.2 vs 53.2 ± 15.6, p < 0.001). Patients with single tumors had a female preponderance compared to multiple tumors (73% vs 51%, OR 2.57, 95% CI 1.23, 5.34, p = 0.01). Patients with multiple tumors were significantly more likely to undergo genetic testing (97% vs 49%, OR 39.7, 95% CI 5.3, 297.4, p < 0.001). If a genetic test was performed, patients with multiple tumors were significantly more likely to have a positive result (82% vs 48%, OR 4.84, 95% CI 1.87, 12.52, p < 0.001). The most common mutation in the single tumor group was SDHB (n = 16) followed by SDHD (n = 6). The most common mutation in the multiple tumor group was SDHD (n = 18) followed by SDHB (n = 10). Odds of having an SDHD mutation vs other mutation was significantly higher in the multiple tumor group than the single tumor group (58% vs 19%, OR 6, 95%CI 1.92, 18.74, p < 0.001).

Conclusions: Patients with multiple tumors skew younger at time of diagnosis, and they did not show a female preponderance. Patients with multiple tumors were more likely to undergo genetic testing and have a positive result. Additionally, an SDHD mutation portends a higher odds of having multiple paragangliomas.