A Clinical Roadmap to Investigate the Genetic Basis of Pediatric Pheochromocytoma: Which Genes Should Physicians Think About?

Figure 1

Algorithm for genetic testing in patients with pediatric PHEO, according to clinical presentation, tumor immunohistochemistry, and biochemical profiles. −ve: negative; +ve: positive; ¹⁸F-FDOPA: ¹⁸F-fluorodihydroxyphenylalanine; PHEO: pheochromocytoma; PGL: paraganglioma; A: adrenaline; D: dopamine; NA: noradrenaline; FH: fumarate hydratase gene; HIF2A: hypoxia-inducible factor 2 alpha gene; MAX: Myc-associated protein X gene; NF1: neurofibromatosis type 1 gene; PHD1: prolyl hydroxylase domain protein 1 gene; RET: rearranged during transfection gene; SDHA: succinate dehydrogenase subunit A gene; SDHA: succinate dehydrogenase subunit A protein; SDHB: succinate dehydrogenase subunit B gene; SDHB: succinate dehydrogenase subunit B protein; SDHC: succinate dehydrogenase subunit C gene; SDHD: succinate dehydrogenase subunit D gene; VHL: von Hippel-Lindau gene. Consider SDHC mutations (PGL; PHEO reported only in patients > 18 years).