Personalized Management of Pheochromocytoma and Paraganglioma

. 2021 Jun 19;43(2):199–239. doi: 10.1210/endrev/bnab019

Practical tip/synthesis:
• Tables 1 and 2 summarize the penetrance, metastatic risk, and tumor location related to the different cluster 1 mutations. • Estimated lifetime penetrance for SDHx and VHL-related PPGLs is < 50%. • At least 50% to 60% of metastatic tumors carry cluster 1 mutations and only about 2% to 4% of metastatic tumors carry cluster 2 mutations. • Cluster 1A–related tumors confer a metastatic risk of ~40%, with the highest risk for SDHB-related (35%-75%) and SDHA-related PPGLs (30%-66%). The metastatic risk for cluster 1B HIF2A/EPAS1-related PPGLs is >30%. • SDHx-mutated tumors are mostly located at extra-adrenal locations, while VHL, FH, and HIF2A/EPAS1-related tumors are located at both intra- and extra-adrenal sites.

Practical tip/synthesis:

• Tables 1 and 2 summarize the penetrance, metastatic risk, and tumor location related to the different cluster 1 mutations.
• Estimated lifetime penetrance for SDHx and VHL-related PPGLs is < 50%.
• At least 50% to 60% of metastatic tumors carry cluster 1 mutations and only about 2% to 4% of metastatic tumors carry cluster 2 mutations.
• Cluster 1A–related tumors confer a metastatic risk of ~40%, with the highest risk for SDHB-related (35%-75%) and SDHA-related PPGLs (30%-66%). The metastatic risk for cluster 1B HIF2A/EPAS1-related PPGLs is >30%.
• SDHx-mutated tumors are mostly located at extra-adrenal locations, while VHL, FH, and HIF2A/EPAS1-related tumors are located at both intra- and extra-adrenal sites.