Screening: The Significance of Pheochromocytoma

Letter to the Editor The Neurofibromatoses by Dr. med. Said Farschtschi, Prof. Dr. med. Victor-Felix Mautner, Dr. med. Anna Cecilia Lawson McLean, Dr. med. Dr. rer. nat. Alexander Schulz, Prof. Dr. med. Dr. med. dent. Reinhard E. Friedrich, Prof. Dr. med. Steffen K. Rosahl in issue 20/2020

Loss of heterozygosity studies indicate that retinal hamartoma is a true component of neurofibromatosis (NF) type 2 and pheochromocytoma a true component of NF type 1 (1). A retrospective cohort study of NF type 1 patients from the Mayo Clinic found the age at presentation to be between age 14 years and 70 years with a pheochromocytoma size between 8 mm and 9.5 cm. In that series, metastatic or recurrent disease occurred in 7.3% of patients. Metastatic adrenal pheochromocytoma in NF1 can present at a size of 2.5 cm at the age of 17 years (2).

The American College of Medical Genetics and Genomics (ACMG) guidelines recommend considering pheochromocytoma in hypertensive NF1 patients age older than age 30 y and do not recommend biochemical or imaging screening in asymptomatic patients.

The authors of the Mayo Clinic study recommend biochemical case detection for pheochromocytoma every 3 years starting at age 10 y and also before elective surgical procedures and conception. In analogy, the screening for pheochromocytoma in patients with von Hippel Lindau disease is recommended at age 4 years, considering that there also are “asymptomatic” individuals with malignant disease (3).

DOI: 10.3238/arztebl.m2021.0042

Prof. Dr. med. Christian A. Koch, FACP, MACE

Fox Chase Cancer Center, Philadelphia, PA 19111 and

University of Tennessee Health Science Center

Department of Medicine/Endocrinology

Memphis, TN 38163, USA

References

1. Bausch B, Borozdin W, Mautner VF, et al.: Germline NF1 mutational spectra and loss of heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1. J Clin Endocrinol Metab 2007; 92: 2784–92

2. Koch CA, Gimm G, Vortmeyer AO, et al.: Does the expression of c-kit (CD117) in neuroendocrine tumors represent a target for therapy ? Ann NY Acad Sci 2006; 1073: 517–26

3. Glaesker S, Vergauwen E, Koch CA, Kutikov A, Vortmeyer AO: Von Hippel Lindau disease: current challenges and future prospects. Onco Targets Ther 2020; 13: 5669–90

4. Farschtschi S, Mautner VF, Lawson McLean AC, Schulz A, Friedrich RE, Rosahl SK: The neurofibromatoses. Dtsch Arztebl Int 2020; 117: 354–60