Abstract | OBJECTIVE: The aim of this study was to determine whether the genetic background of the disease should be incorporated into treatment decision making. BACKGROUND: 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.
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Authors | Ryan J Ellis, Dhaval Patel, Tamara Prodanov, Naris Nilubol, Karel Pacak, Electron Kebebew |
Journal | Annals of surgery
(Ann Surg)
Vol. 260
Issue 1
Pg. 158-62
(Jul 2014)
ISSN: 1528-1140 [Electronic] United States |
PMID | 24169168
(Publication Type: Journal Article, Research Support, N.I.H., Intramural)
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Chemical References |
- DNA, Neoplasm
- SDHB protein, human
- Succinate Dehydrogenase
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Topics |
- Adolescent
- Adult
- Aged
- Carotid Body Tumor
(genetics, metabolism, surgery)
- Child
- DNA Mutational Analysis
- DNA, Neoplasm
(genetics)
- Disease-Free Survival
- Female
- Follow-Up Studies
- Genetic Testing
- Germ-Line Mutation
- Head and Neck Neoplasms
(genetics, metabolism, surgery)
- Humans
- Male
- Middle Aged
- Retrospective Studies
- Succinate Dehydrogenase
(genetics, metabolism)
- Young Adult
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