OBSOLETE: Catecholamine-producing tumor

Catecholamine-producing tumors, also known as pheochromocytomas and paragangliomas (PPGLs), are neuroendocrine tumors that arise from chromaffin cells of the adrenal medulla (pheochromocytomas) or from extra-adrenal sympathetic and parasympathetic paraganglia (paragangliomas). These tumors produce excessive amounts of catecholamines — primarily epinephrine, norepinephrine, and sometimes dopamine — which can cause episodic or sustained hypertension, headaches, sweating, palpitations, anxiety, and pallor. The cardiovascular system is most significantly affected, and undiagnosed tumors can lead to life-threatening hypertensive crises, cardiac arrhythmias, stroke, or multi-organ failure. Other body systems affected include the endocrine and nervous systems. Note: This Orphanet entry (ORPHA:717) is classified as OBSOLETE and has been replaced by more specific disease classifications, including pheochromocytoma (ORPHA:29072) and paraganglioma (ORPHA:29072). Patients and clinicians should refer to the updated entries for current information. Historically, these tumors can occur sporadically or as part of hereditary syndromes such as Multiple Endocrine Neoplasia type 2 (MEN2), Von Hippel-Lindau disease, neurofibromatosis type 1, or hereditary paraganglioma-pheochromocytoma syndromes caused by mutations in succinate dehydrogenase (SDH) subunit genes. Treatment primarily involves surgical resection of the tumor after adequate preoperative alpha-adrenergic blockade to prevent intraoperative hypertensive crises. For metastatic or malignant cases, options include radionuclide therapy with MIBG (meta-iodobenzylguanidine), chemotherapy, and targeted therapies. Genetic testing is recommended for all patients given the high proportion (up to 40%) of hereditary cases.

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