Differences in Clinical Manifestations and Tumor Features Between Metastatic Pheochromocytoma/Paraganglioma Patients With and Without Germline SDHB Mutation

Objective: To compare metastatic pheochromocytoma/paraganglioma (MPP) patients with germline SDHB mutations (SDHB MPP) and without SDHB mutations (non-SDHB MPP) in terms of baseline clinical manifestations, tumor characteristics, and outcomes. Methods: Clinical data were retrospectively reviewed in 101 MPP patients, including 34 SDHB MPP patients and 61 non-SDHB MPP patients. Results: SDHB MPP patients presented at a younger age at onset, diagnosis, or metastasis (25 +/- 16 vs 36 +/- 14, 28 +/- 17 vs 38 +/- 15, and 31 +/- 17 vs 44 +/- 14 years old, respectively, P <.01 for all) than non-SDHB patients. Compared with their non-SDHB counterparts, SDHB patients were more likely to have paragangliomas (83% vs 47%, P <.05), synchronous metastases (44% vs 23%, P <.05), bone metastases (80% vs 48%, P <.01), and a shorter progression-free survival (3 years vs 5 years, P <.01). The Ki-67 index was higher in SDHB tumors (P <.05). The 5- and 10-year survival rates were 79% and 74%, respectively, in all patients. Seventeen patients died from MPP, and the time from metastasis to death in patients who had received systemic therapy was significantly longer than in those who had not (3.1 +/- 1.5 vs 1.4 +/- 0.7 years, P <.01). Conclusion: Compared with MPP patients without SDHB mutations, MPP patients with SDHB mutations were younger at onset, diagnosis, or metastasis; had a higher incidence of synchronous metastases, higher ratio of paraganglioma, and higher Ki-67 index; had a shorter postoperative progression-free survival; and were more likely to develop bone metastasis or sole liver metastasis. Our results suggest that patients with SDHB mutations should be identified early and monitored regularly to achieve optimal clinical outcomes. (C) 2020 AACE. Published by Elsevier Inc. All rights reserved.