Pheochromocytomas and Abdominal Paragangliomas: A Practical Guidance

SIMPLE SUMMARY: Pheochromocytomas and abdominal paragangliomas (PPGLs) are rare. They can be discovered incidentally by imaging with computed tomography or magnetic resonance imaging and during hormonal surveillance in patients with known genetic variants that are associated with PPGLs. As most PPGLs are functioning, a hormonal work-up evaluating for catecholamine excess is recommended. Classical symptoms, such as tachycardia, hypertension and headache, can be present, but when the PPGL is discovered as an incidentaloma, symptoms may be lacking or be more discrete. PPGLs carry malignant potential, and patients should undergo close surveillance, as recurrence of disease or metastasis may develop. Genetic susceptibility for multifocal disease has gained more attention, and germline variants are commonly detected, thus facilitating detection of hereditary cases and afflicted family members. Any patient with a PPGL should be managed by an expert multidisciplinary team consisting of endocrinologists, radiologists, surgeons, pathologists and clinical geneticists. ABSTRACT: Pheochromocytomas and abdominal paragangliomas (PPGLs) are rare tumors arising from the adrenal medulla or the sympathetic nervous system. This review presents a practical guidance for clinicians dealing with PPGLs. The incidence of PPGLs has risen. Most cases are detected via imaging and less present with symptoms of catecholamine excess. Most PPGLs secrete catecholamines, with diffuse symptoms. Diagnosis is made by imaging and tests of catecholamines. Localized disease can be cured by surgery. PPGLs are the most heritable of all human tumors, and germline variants are found in approximately 30–50% of cases. Such variants can give information regarding the risk of developing recurrence or metastases as well as the risk of developing other tumors and may identify relatives at risk for disease. All PPGLs harbor malignant potential, and current histological and immunohistochemical algorithms can aid in the identification of indolent vs. aggressive tumors. While most patients with metastatic PPGL have slowly progressive disease, a proportion of patients present with an aggressive course, highlighting the need for more effective therapies in these cases. We conclude that PPGLs are rare but increasing in incidence and management should be guided by a multidisciplinary team.