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<p>Pheochromocytoma and paraganglioma are rare paediatric neoplasms arising from the chromaffin cells of the sympathetic nervous system. Pheochromocytoma is localised in the medulla of the adrenal gland, while paraganglioma may develop in extra-adrenal sites. Approximately 30–40% of paediatric cases have a genetic basis, often associated with hereditary syndromes such as MEN2, NF1, VHL and SDH mutations. The main symptoms result from excessive catecholamine secretion and include hypertension, headache, sweating, palpitations and hypertensive crisis. Diagnosis is based on plasma and urinary metanephrines, genetic testing and imaging with CT, MRI, MIBG scintigraphy or PET. The primary treatment modality is surgical in nature, preceded by pharmacological preparation with the objective of preventing intraoperative crises. In cases that are advanced or metastatic, metabolic radiotherapy with MIBG or targeted therapies are utilised. The prognosis is contingent upon early diagnosis and the potential presence of genetic predisposition, rendering long-term follow-up essential.</p>

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Il feocromocitoma e il paraganglioma in età pediatrica

  • 期刊论文

  • 发表日期：

    2025年4月22日

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  • Sabrina Criscuolo,
  • Annalisa Deodati

摘要

Pheochromocytoma and paraganglioma are rare paediatric neoplasms arising from the chromaffin cells of the sympathetic nervous system. Pheochromocytoma is localised in the medulla of the adrenal gland, while paraganglioma may develop in extra-adrenal sites. Approximately 30–40% of paediatric cases have a genetic basis, often associated with hereditary syndromes such as MEN2, NF1, VHL and SDH mutations. The main symptoms result from excessive catecholamine secretion and include hypertension, headache, sweating, palpitations and hypertensive crisis. Diagnosis is based on plasma and urinary metanephrines, genetic testing and imaging with CT, MRI, MIBG scintigraphy or PET. The primary treatment modality is surgical in nature, preceded by pharmacological preparation with the objective of preventing intraoperative crises. In cases that are advanced or metastatic, metabolic radiotherapy with MIBG or targeted therapies are utilised. The prognosis is contingent upon early diagnosis and the potential presence of genetic predisposition, rendering long-term follow-up essential.