title: Pheochromocytoma and paraganglioma in patients with neurofibromatosis type 1.
abstract: OBJECTIVE
  Individuals with neurofibromatosis type 1 (NF1) are at an increased risk of developing a pheochromocytoma or paraganglioma (PHEO/PGL). However, the best case detection strategy is unknown. Our objectives were to describe the prevalence, clinical presentation and outcomes of PHEO/PGL associated with NF1 and formulate case detection testing recommendations for PHEO/PGL.
  
  
  METHODS
  A retrospective cohort study from 1959 to 2015, Tertiary medical centre.
  
  
  METHODS
  We studied 41 patients with NF1 and PHEO/PGL who were identified using the PHEO/PGL and NF1 databases: 3289 and 1415 patients, respectively. Our main outcome measures were prevalence of PHEO/PGL in NF1 and occurrence of bilateral, recurrent, or metastatic disease and method of PHEO/PGL detection (symptoms vs incidental vs biochemical case detection testing).
  
  
  RESULTS
  The prevalence of PHEO/PGL in patients with NF1 was 2·9%. The 41 patients included 23 men (56%) and 18 women. The median age at diagnosis was 41·0 years (range 14-67). The median tumour size was 3·4 cm (range 0·8-9·5). Bilateral PHEO was identified in 17% (n = 7) of patients, all women. Metastatic or recurrent disease occurred in 7·3% (n = 3). In the last 25 years, PHEO/PGL was diagnosed after incidental finding on computed imaging in 31% of patients (n = 11). Only three patients (7·3%) had PHEO/PGL discovered because of biochemical case detection testing.
  
  
  CONCLUSIONS
  We recommend patients with NF1 have biochemical case detection testing for PHEO/PGL every 3 years starting at age 10 to 14 years. Biochemical case detection testing should also be carried out prior to elective surgical procedures and conception.
authors.affiliation: Mayo School of Graduate Medical Education, Mayo Clinic, Rochester, MN, USA.
authors.forename: Lucinda M
authors.initials: LM
authors.lastname: Gruber
authors.affiliation: Division of Endocrinology, Metabolism and Nutrition, Mayo Clinic, Rochester, MN, USA.
authors.forename: Dana
authors.initials: D
authors.lastname: Erickson
authors.affiliation: Department of Medical Genetics, Mayo Clinic, Rochester, MN, USA.
authors.forename: Dusica
authors.initials: D
authors.lastname: Babovic-Vuksanovic
authors.affiliation: Department of General Surgery, Endocrine Subspecialty, Mayo Clinic, Rochester, MN, USA.
authors.forename: Geoffrey B
authors.initials: GB
authors.lastname: Thompson
authors.affiliation: Division of Endocrinology, Metabolism and Nutrition, Mayo Clinic, Rochester, MN, USA.
authors.forename: William F
authors.initials: WF
authors.lastname: Young
authors.affiliation: Division of Endocrinology, Metabolism and Nutrition, Mayo Clinic, Rochester, MN, USA.
authors.forename: Irina
authors.initials: I
authors.lastname: Bancos
mesh_terms: D000293:Adolescent; D000315:Adrenalectomy; D000328:Adult; D000368:Aged; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008910:Minnesota / Q000453:epidemiology; D009456:Neurofibromatosis 1 / Q000150:complications*; D010235:Paraganglioma / Q000453:epidemiology / Q000209:etiology*; D010673:Pheochromocytoma / Q000453:epidemiology / Q000209:etiology* / Q000601:surgery; D015995:Prevalence; D012189:Retrospective Studies; D055815:Young Adult