Pheochromocytoma and Paraganglioma

Pheochromocytomas and paragangliomas are rare neuroendocrine tumors that arise from chromaffin cells and can lead to excessive catecholamine secretion, posing significant diagnostic and therapeutic challenges. This review highlights the clinical presentation, diagnostic approaches, and management strategies for these tumors, emphasizing the importance of biochemical testing and imaging for accurate localization. The article also explores the genetic basis of these tumors, with over 19 susceptibility genes identified, including RET, VHL, NF1, and SDHx mutations, which inform personalized treatment and surveillance. Surgical resection remains the cornerstone of therapy, with advancements in minimally invasive techniques improving outcomes. The review underscores the need for genetic testing and counseling in patients and their families to guide proactive management. Additionally, it addresses the complexities of managing metastatic disease and the potential for targeted therapies. The article concludes with insights into the evolving understanding of these tumors, advocating for early diagnosis and gene-informed precision care to optimize patient outcomes.

Pheochromocytomas and paragangliomas are rare neuroendocrine tumors that arise from chromaffin cells and can lead to excessive catecholamine secretion, posing significant diagnostic and therapeutic challenges. This review highlights the clinical presentation, diagnostic approaches, and management strategies for these tumors, emphasizing the importance of biochemical testing and imaging for accurate localization. The article also explores the genetic basis of these tumors, with over 19 susceptibility genes identified, including RET, VHL, NF1, and SDHx mutations, which inform personalized treatment and surveillance. Surgical resection remains the cornerstone of therapy, with advancements in minimally invasive techniques improving outcomes. The review underscores the need for genetic testing and counseling in patients and their families to guide proactive management. Additionally, it addresses the complexities of managing metastatic disease and the potential for targeted therapies. The article concludes with insights into the evolving understanding of these tumors, advocating for early diagnosis and gene-informed precision care to optimize patient outcomes.