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Abstract

Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors arising from adrenal medulla and extra-adrenal paraganglia. Metastatic pheochromocytomas, pose diagnostic and therapeutic challenges due to their atypical presentations and potential for malignant transformation years after primary tumor resection. We report a case of 61-year-old woman who presented with intermittent cough, shortness of breath, and elevated blood pressure 6 years after resection of primary adrenal pheochromocytoma. Imaging revealed bilateral pulmonary nodules, a retroperitoneal mass, and L4 vertebral involvement, raising suspicion for metastatic pheochromocytoma. Elevated serum metanephrines and normetanephrines, alongside tissue biopsy and MIBG imaging, confirmed diagnosis. Germline genetic testing did not reveal any pathogenic mutations. The patient underwent CT-guided cryoablation for retroperitoneal lymph nodes and scheduled for radiofrequency ablation (RFA) of metastatic lesions. This case underscores evolving understanding of PPGLs, challenging “10% rule” regarding metastasis and inheritance. While mutations in genes such as SDHB are associated with increased metastatic risk, sporadic cases like this highlight need for lifelong surveillance in all patients' post-resection of primary tumor. Ablative techniques, EBRT, and emerging systemic therapies are promising methods for managing metastatic disease. This case highlights importance of long-term follow-up and genetic testing in patients with PPGLs, even in absence of hereditary mutations, to detect and manage late-onset metastatic disease efficiently.

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