03 April 2025 : Review article
Current Strategies for Managing Pheochromocytoma and Paraganglioma in Children and Adolescents
Aneta Michalczewska
ADEF 1*, Urszula Ambroziak DEF 2, Piotr Skrzypczyk ADEFG 3
DOI: 10.12659/MSM.947277
Med Sci Monit 2025; 31:e947277
Introduction
Incidence and Prevalence
Genetic Basis
Clinical Presentation
Biochemical Testing
Imaging Studies
Screening in Families
Pharmacological Treatment
Perioperative Management
Surgical Treatment
Treatment of Metastatic Tumors
Treatment of Recurrent Tumors
Surveillance
Personalized Management
Future Directions
Conclusions
References
Table 1 Clinical findings associated with syndromic PPGL [14–17,21,23,47–50].
| Syndrome | Mutation | Clinical manifestation |
|---|---|---|
| Multiple endocrine neoplasia type 2 | MEN2A: pheochromocytoma, medullary thyroid carcinoma, hyperparathyroidism, cutaneous lichen amyloidosisMEN2B: pheochromocytoma, medullary thyroid carcinoma, multiple mucocutaneous neuromas, marfanoid habitus, intestinal ganglioneuromas | |
| von Hippel-Lindau disease | Central nervous system/retinal hemangioblastoma, renal cell carcinoma, pheochromocytoma, pancreatic neuroendocrine tumor, endolymphatic sac tumors, renal and pancreatic cysts | |
| Neurofibromatosis type 1 | PPGL, pigmentary lesions (café-au-lait macules, skinfold freckling and Lisch nodules), dermal neurofibromas, skeletal abnormalities, brain tumors (optic pathway gliomas and glioblastoma), peripheral nerve tumors (spinal neurofibromas, plexiform neurofibromas and malignant peripheral nerve sheath tumors), learning disabilities, attention deficits, and social and behavioral problems | |
| SDHx-associated hereditary paraganglioma-pheochromocytoma syndromes | genes | PPGL, renal cell carcinoma, gastrointestinal stromal tumors, pituitary adenomas: head/neck paragangliomaCarney-Stratakis syndrome – the dyad of paragangliomas and gastric stromal sarcomas, which is caused by germline mutations in SDHD, SDHC and SDHB |
| Carney triad | Unexplained genetics, recurrent chromosome losses possibly leading to impaired function | The triad of paragangliomas, gastric stromal tumors and pulmonary chondromas |
| Hereditary leiomyomatosis and renal cell carcinoma syndrome | Hereditary leiomyomatosis, renal cell carcinoma and rarely phaeochromocytoma | |
| Polycythemia and paraganglioma syndrome | PPGL, polycythemia, somatostatinoma, vascular malformations, ocular abnormalities | |
| PPGL, renal cell carcinoma | ||
| PPGL, pituitary neuroendocrine tumors | ||
| Giant cell tumors of the bones, pheochromocytoma, bladder and periaortic PPGL | ||
| PPGL, polycythemia, normal or mild elevated erythropoietin (EPO) | ||
| PPGL, pituitary adenoma, uterine carcinoma | ||
| MEN – multiple endocrine neoplasia; PPGL – pheochromocytoma and paraganglioma; EPO – erythropoietin. | ||