Pheochromocytoma screening

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mohammed Abdelwahed M.D[2]

Overview

Familial pheochromocytoma is associated with multiple endocrine neoplasias, VHL and neurofibromatosis1 and should be screened by plasma fractionated metanephrines levels. The next step is to obtain 24-hour urinary fractionated metanephrine levels. Imaging should be considered if the initial tests are positive. Genetic testing also should be performed in high-risk patients.

Screening

• According to the Endocrine Society, biochemical screening for pheochromocytoma in pediatric patients with VHL syndrome should be started at 5 years of age with biochemical surveillance every year for the rest of life. Anatomic imaging should be used when norepinephrine levels are elevated more than two times upper normal limits.
• For high-risk children, screening for pheochromocytoma should begin by 11 years of age. For moderate risk patients, screening should be started by 16 years of age. Plasma fractionated metanephrine level is the best test in this case. Normal values are enough to stop any further tests but if elevated results, 24-hour urinary fractionated metanephrines should be done. If positive, adrenal imaging (CT) or (MRI) should be performed.

Indications for genetic screening

• Genetic testing should be performed in:
  • Patients with a family history of pheochromocytoma
  • Tumors or malignant or extra-adrenal pheochromocytoma
  • Young patients who are aged 50 years or under
  • Families whose infants or young children have Hirschsprung disease
  • Bilateral or multifocal lesions
  • First-degree relatives of a patient with proven germline RET mutation
  • Patients with cutaneous lichen amyloidosis
  • Patients with known RET mutations perform a prophylactic thyroidectomy. Children with the highest risk mutation should have thyroidectomy within the first years of life. Children with moderate risk mutations at age five years.
  • Parents whose young children have MEN type2