The Pheochromocytoma or Paraganglioma Comprehensive Panel examines 11 genes associated with an increased risk for pheochromocytoma or paraganglioma. This test includes both well-established pheochromocytoma or paraganglioma susceptibility genes, as well as candidate genes with limited evidence of an association.
Who is this test for?
Patients with a personal or family history suggestive of hereditary pheochromocytoma or paraganglioma. Red flags for hereditary cancer could include onset of cancer prior to the age of 50 years, more than one primary cancer in a single person, and multiple affected people within a family. The presence of more than one pheochromocytoma or paraganglioma in first or second degree relatives, as well as the presence of renal cell carcinoma or gastrointestinal stromal tumors in a patient’s clinical or family history indicate that genetic testing for a hereditary pheochromocytoma or paraganglioma syndrome may be warranted. After consideration of a patient’s clinical and family history, this testing may be appropriate for some pediatric patients as preventative steps may be warranted in childhood. (If there are specific genes that you do NOT want included, please indicate this on the test requisition form.) This test is designed to detect individuals with a germline pathogenic variant, and is not validated to detect mosaicism below the level of 20%. It should not be ordered on tumor tissue.
What are the potential benefits for my patient?
Patients identified with a hereditary pheochromocytoma or paraganglioma can benefit from increased surveillance and preventative steps to better manage their risk for cancer. Additionally, there are strong genotype/phenotype correlations known for many of the genes that can cause these types of tumors. Some genes are correlated with a high risk for malignant transformation, while others are not, potentially guiding treatment towards less aggressive interventions. Some genes are associated with other malignancies, and additional screening is needed. Also, if an inherited susceptibility is found, your patient’s family members can be tested to help define their risk. If a pathogenic variant is identified in your patient, close relatives (children, siblings, parents) could have as high as a 50% risk to also be at increased risk. In some cases, screening should begin in childhood.