Characteristics and Outcomes of Metastatic SDHB and Sporadic Pheochromocytoma/Paraganglioma: An National Institutes of Health Study

Abstract

Objective: Overall about 10 to 20% of pheochromocytomas/paragangliomas (PHEOs/PGLs) are metastatic, with higher metastatic potential observed in succinate dehydrogenase subunit B/fumarate hydratase (SDHB/FH)-related tumors. Due to the improved availability of biochemical and genetic testing and the frequent use of anatomical/functional imaging, there is currently a higher detection rate of metastatic PHEO/PGL.

Methods: A retrospective analysis of 132 patients (27 children, 105 adults) with metastatic PHEO/PGL diagnosed and treated from 2000 to 2014 was conducted.

Keywords

• succinate-dehydrogenase
• germline mutations
• gene-mutations
• malignant pheochromocytomas
• plasma methoxytyramine
• hereditary forms
• hif2a mutations
• max mutations
• primary tumor
• b gene