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Pheochromocytoma Screening Initiation and Frequency in von Hippel-Lindau Syndrome
Rachel D Aufforth1, Pooja Ramakant1, Samira M Sadowski1
1Endocrine Oncology Branch (R.D.A. S.M.S., N.N., E.K.), National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892; Endocrine Surgery Department (P.R.), Christian Medical College, Vellore, India; Geisel School of Medicine (A.M.), Hanover, New Hampshire; Thoracic and Gastrointestinal Oncology Branch (K.T.-M.), National Cancer Institute, Bethesda, Maryland; and Program in Reproductive and Adult Endocrinology (K.P.), Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892.
Context:
Patients with von Hippel-Lindau (VHL) syndrome have a 25-30% chance of developing pheochromocytoma. Although practice guidelines recommend biochemical and radiological screening every 1-2 years for pheochromocytoma in patients with VHL, there are limited data on the optimal age and frequency for screening.
Objective:
Our objective was to determine the earliest age of onset and frequency of contralateral and recurrent pheochromocytomas in patients with VHL syndrome.
Methods:
This is a retrospective analysis of a prospective cohort of patients with VHL enrolled in a natural history study.
Results:
A total of 273 patients diagnosed with VHL were enrolled in a natural history clinical study. Thirty-one percent (84) were diagnosed with pheochromocytoma. The mean age of diagnosis was 28.8 ± 13.9 years. The earliest age at diagnosis was 5.5 years. Median follow-up for the cohort was 116.6 months (range, 0.1-613.2). Ninety-nine percent (83) of patients underwent adrenalectomy. Fifty-eight and 32% of patients had metanephrines and/or catecholamines elevated more than two times and more than four times the upper limit of normal, respectively. Twenty-five percent (21) of pheochromocytomas were diagnosed in pediatric patients younger than 19 years of age, and 86% and 57% of pediatric patients had an elevation more than two times and more than four times upper limit of normal, respectively. Eight patients had a total of nine recurrences. The median age at recurrence was 33.5 years (range, 8.8-51.9). Recurrences occurred as short as 0.5 years and as long as 39.7 years after the initial operation.
Conclusions:
Our findings among VHL pediatric patients supports the need for biochemical screening starting at age 5 with annual lifelong screening.
