“These testing recommendations are important because 40% to 50% of all these tumors are now linked to inherited genes. In 1990 we had identified just one gene. We now have 15,” said Dr. Young.
The guidelines recommend engaging all patients in decisions regarding genetic testing. Both pre-test and post-test counseling should be made available.1
For all patients with PPGL, a clinical feature-driven algorithm for specific genetic testing is recommended in the guidelines. Patients with paraganglioma should be tested for succinate dehydrogenase (SDH) mutations.1
“The expansion of genetic testing is new. I would use the guidelines as a reference for which genetic tests to order,” Dr. Weinerman said.
According to the guidelines, minimally invasive, laparoscopic adrenalectomy is the treatment of choice for most pheochromocytomas. Open resection is suggested for large or invasive pheochromocytomas and for most paragangliomas.
Perioperative management should include preoperative blockade using an alpha-adrenergic receptor blocker. Plasma and urine metanephrines should be monitored postoperatively for recurrent or metastatic disease, according to the guidelines.1
“It should not be assumed that a surgeon who does lots of laparoscopic gall bladder procedures is experienced enough to operate on a pheochromocytoma. These tumors are fragile. A fracture of the tumor during removal can result in an inside spoil that could lead to incurable malignancy,” warned Dr. Young.
Due to the rarity and complexity of PPGLs, the guidelines recommend a personalized approach for testing, imaging, treatment and follow-up care. They also recommend having these evaluations and treatments conducted at a medical center by a multidisciplinary team with appropriate expertise.1
“One of the weaknesses of the guidelines is an absence of good options for treating and managing malignant PPGL. There is no cure and nothing new here. We are still using the same chemotherapy regimens we were using in the 1980s. That is an area where we would like to see some future research and progress,” Dr. Young said.
“The recommendation for specialized care is important and could be used to convince insurance companies to pay for transfer from a community hospital to a major medical center where appropriate care would be available. Overall, these guidelines make a lot of sense and serve as a good standard reference for all clinical endocrinologists,” said Dr. Weinerman.
- Lenders JWM, Duh QY, Eisenhofer G, et al. Pheochromocytoma and paraganglioma: An Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2014;99(6):1915-1942.
- National Cancer Institute. Pheochromocytoma and paraganglioma treatment (PDQ®). http://www.cancer.gov/cancertopics/pdq/treatment/pheochromocytoma/HealthProfessional. Accessed August 2014.