title: Pheochromocytoma Screening Initiation and Frequency in von Hippel-Lindau Syndrome.
abstract: BACKGROUND
  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.
authors.affiliation: Endocrine 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.
authors.forename: Rachel D
authors.initials: RD
authors.lastname: Aufforth
authors.affiliation: Endocrine 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.
authors.forename: Pooja
authors.initials: P
authors.lastname: Ramakant
authors.affiliation: Endocrine 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.
authors.forename: Samira M
authors.initials: SM
authors.lastname: Sadowski
authors.affiliation: Endocrine 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.
authors.forename: Amit
authors.initials: A
authors.lastname: Mehta
authors.affiliation: Endocrine 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.
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Trebska-McGowan
authors.affiliation: Endocrine 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.
authors.forename: Naris
authors.initials: N
authors.lastname: Nilubol
authors.affiliation: Endocrine 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.
authors.forename: Karel
authors.initials: K
authors.lastname: Pacak
authors.affiliation: Endocrine 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.
authors.forename: Electron
authors.initials: E
authors.lastname: Kebebew
mesh_terms: D000293:Adolescent; D000310:Adrenal Gland Neoplasms / Q000175:diagnosis* / Q000453:epidemiology / Q000601:surgery; D000315:Adrenalectomy; D000328:Adult; D000367:Age Factors; D017668:Age of Onset; D002395:Catecholamines / Q000097:blood / Q000652:urine; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D008676:Metanephrine / Q000097:blood / Q000652:urine; D008875:Middle Aged; D009364:Neoplasm Recurrence, Local; D010673:Pheochromocytoma / Q000175:diagnosis* / Q000453:epidemiology / Q000601:surgery; D011446:Prospective Studies; D012189:Retrospective Studies; D055815:Young Adult; D006623:von Hippel-Lindau Disease / Q000150:complications* / Q000453:epidemiology
chemical_list: D002395:Catecholamines; D008676:Metanephrine