Pheochromocytoma and Paraganglioma- A review by NEJM
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More than 130 years have passed since the first patient with documented pheochromocytoma was described. The evolution in diagnosis and treatment has been dramatic. The clinical presentation has evolved from classic symptoms of paroxysmal hypertension, palpitations, and headaches to the incidental discovery of an adrenal mass on cross¬sectional imaging and detection of asymptomatic pheochromocytomas based on germ line ¬mutation testing.

The biochemical methods for case detection have become more sensitive and specific. Effective tumor localization has been facilitated by advances in crosssectional imaging with CT and MRI and in functional imaging with I-MIBG scintigraphy or Ga-DOTATATE-PET-CT. The development of minimally invasive surgical techniques has improved operative outcomes. Individualized treatment and tumor surveillance have been remarkably advanced based on the identification of 19 genes in which germline mutations cause pheochromocytoma or paraganglioma. These endocrine neoplasms are rare, and many clinicians will never encounter them. Nevertheless, it is important for clinicians to remain vigilant and to suspect, confirm, localize, and resect these tumors, because the associated symptoms and hypertension are curable with surgical removal. If the tumor is not diagnosed and removed, there is a risk of lethal paroxysm and cardiac disorders.

These tumors have malignant potential, and early resection is the way to prevent metastatic disease. The evidence to date shows that more than 40% of patients presenting with pheochromocytoma or paraganglioma, irrespective of age at onset and family history, carry germline mutations. Ideally, all persons presenting with these neoplasms should undergo gene ¬panel testing in the context of genetic counseling, so that prospective gene-specific management can be initiated proactively. If a patient is found to carry a mutation, all first-degree relatives should be offered mutation-specific testing. Although gene informed surveillance, with early detection and cure, is a triumph of gene-informed precision care, it would be much more desirable to provide a targeted preventive therapy in order to avoid the risks of cumulative radiation doses and contrast medium associated with current tumor surveillance strategies.