Objective: The aim of this study was to determine whether the genetic background of the disease should be incorporated into treatment decision making.
Background: Carotid body paragangliomas are rare tumors that often affect patients with genetic mutations of the succinate dehydrogenase complex (SDHx). Despite growing evidence that germ line genetic mutations alter the aggressiveness of paragangliomas, treatment decisions are currently based only on clinical symptoms and tumor size in patients with carotid body paragangliomas.
Methods: Retrospective analysis of 34 patients with carotid body paragangliomas who underwent genetic testing and surgical treatment. Recurrence was defined by the return of locoregional disease and/or development of distant metastases. Clinical characteristics and genetic testing results were analyzed as predictors of patient outcomes.
Results: Thirty-four patients underwent 41 primary carotid body paraganglioma resections (median follow-up time of 42 months, range: 1–293). Overall survival was 91.2%. Twelve patients had germ line mutations in SDHB, 17 in SDHD, and 5 carried no known mutation. Surgical resection of larger tumors was associated with higher operative complications (odds ratio: 5.4, P = 0.05). Tumor size at resection was significantly smaller in patients with SDHB mutations than in patients with non-SDHB mutations (2.1 vs 3.3 cm, P = 0.02). Patients with a mutation in the SDHB gene also had significantly worse disease-free survival compared with patients without an SDHB gene mutation (P = 0.03).
Conclusions: Mutations in the SDHB gene are associated with worse disease-free survival after resection in patients with carotid body paragangliomas despite earlier intervention. This suggests that a more aggressive surgical approach is warranted in patients with SDHB mutations.
The presence of SDHB mutations in patients with carotid body paragangliomas was associated with malignant disease and lower disease-free survival than in patients who had non-SDHB carotid body paragangliomas. Thus, earlier and more aggressive surgical intervention is warranted in patients with SDHB mutations associated carotid body paragangliomas.
*Endocrine Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD
†Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA; and
‡Program in Reproductive and Adult Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD.
Reprints: Electron Kebebew, MD, Endocrine Oncology Branch, National Cancer Institute, National Institutes of Health, Building 10-CRC, Room 3-5581, Bethesda, MD 20892. E-mail: firstname.lastname@example.org.
Disclosure: Supported by the intramural research program of the Center for Cancer Research, National Cancer Institute, National Institutes of Health. The authors declare no conflicts of interest.