Personalized Management of Pheochromocytoma and Paraganglioma

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

Practical tip/synthesis:
• Fig. 1 summarizes the pseudohypoxia-associated cluster 1 with all its loss- and gain-of-function mutations. • Cluster 1A comprises mutations in the Krebs cycle-associated genes: SDHA[AF2]/B/C/D, FH, MDH2, IDH, GOT2, SLC25A11 and DLST. • Cluster 1B includes mutations in VHL/EPAS1-related genes: PHD1/2, VHL, HIF2A/EPAS1, IRP1. • These mutations lead to stabilization of HIF-2α and thus, among other actions, promote angiogenesis, tumor progression, migration, invasion, and metastasis.

Practical tip/synthesis:

• Fig. 1 summarizes the pseudohypoxia-associated cluster 1 with all its loss- and gain-of-function mutations.
• Cluster 1A comprises mutations in the Krebs cycle-associated genes: SDHA[AF2]/B/C/D, FH, MDH2, IDH, GOT2, SLC25A11 and DLST.
• Cluster 1B includes mutations in VHL/EPAS1-related genes: PHD1/2, VHL, HIF2A/EPAS1, IRP1.
• These mutations lead to stabilization of HIF-2α and thus, among other actions, promote angiogenesis, tumor progression, migration, invasion, and metastasis.