title: Pheochromocytomas are diagnosed incidentally and at older age in neurofibromatosis type 1.
abstract: BACKGROUND
  Guidelines do not currently recommend routine systematic hormonal screening for pheochromocytoma (PHEO) in all/normotensive patients with neurofibromatosis type 1 (NF1), in contrast to other PHEO-predisposing genetic syndromes such as Von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2.
  
  
  OBJECTIVE
  To characterize and compare parameters of PHEO in patients with NF1 to patients with or without other germline mutations.
  
  
  METHODS
  A retrospective chart review of patients with histologically proven PHEO at the Centre hospitalier de l'Université de Montréal from 2000 through 2015.
  
  
  RESULTS
  Neurofibromatosis type 1 was diagnosed clinically in nine patients in our cohort of 145 PHEO (6·2%). The mean age at diagnosis was 48 ± 14 years, and seven patients had hypertension. No PHEO was diagnosed by systematic clinical screening. The mode of presentation was adrenal incidentalomas in five patients. Urinary metanephrines were elevated in 5/9 cases. Mean tumour diameter was 3·5 cm (min-max 1·5-12·5 cm). One had bilateral PHEO and none were malignant to date. Statistically significant differences were noted when comparing PHEO in NF1 to other genetic syndromes (n = 20), in terms of age at diagnosis (mean 48 vs 30 years P < 0·05), initial mode of presentation (no PHEO detected by routine screening in NF1 vs 40% in other genetic syndromes P < 0·05) and familial history of catecholamine-secreting tumour (none in NF1 vs 55% in patients with other genetic syndrome P < 0·05).
  
  
  CONCLUSIONS
  Pheochromocytoma in NF1 occurs in older patients with no family history compared to other syndromes; it is mostly unilateral, secretory and benign. The older age at diagnosis of PHEO could be secondary to delay in identification due to lack of systematic screening for PHEO in NF1.
authors: Division of Endocrinology, Department of Medicine, Centre de Recherche du Centre hospitalier de l'Université de Montréal, Montreal, Quebec, Canada.
authors: Jessica
authors: J
authors: Moramarco
authors: Division of Endocrinology, Department of Medicine, Centre de Recherche du Centre hospitalier de l'Université de Montréal, Montreal, Quebec, Canada.
authors: Nada
authors: N
authors: El Ghorayeb
authors: Division of Genetics, Centre hospitalier de l'Université de Montréal, Montreal, Quebec, Canada.
authors: Nadine
authors: N
authors: Dumas
authors: Pathology Department, Centre hospitalier de l'Université de Montréal, Montreal, Quebec, Canada.
authors: Serge
authors: S
authors: Nolet
authors: Biochemistry Department, Centre hospitalier de l'Université de Montréal, Montreal, Quebec, Canada.
authors: Luce
authors: L
authors: Boulanger
authors: Assistance Publique - Hôpitaux de Paris, Service de Génétique, Hôpital Européen Georges Pompidou, Paris, France.|Faculté de Médecine, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.|INSERM, UMR970, Centre de recherche de l'HEGP, Paris, France.
authors: Nelly
authors: N
authors: Burnichon
authors: Division of Endocrinology, Department of Medicine, Centre de Recherche du Centre hospitalier de l'Université de Montréal, Montreal, Quebec, Canada.
authors: André
authors: A
authors: Lacroix
authors: Division of Genetics, Centre hospitalier de l'Université de Montréal, Montreal, Quebec, Canada.
authors: Zaki
authors: Z
authors: Elhaffaf
authors: Assistance Publique - Hôpitaux de Paris, Service de Génétique, Hôpital Européen Georges Pompidou, Paris, France.
authors: Anne-Paule
authors: AP
authors: Gimenez Roqueplo
authors: Division of Genetics, Centre hospitalier de l'Université de Montréal, Montreal, Quebec, Canada.
authors: Pavel
authors: P
authors: Hamet
authors: Division of Endocrinology, Department of Medicine, Centre de Recherche du Centre hospitalier de l'Université de Montréal, Montreal, Quebec, Canada.|Division of Genetics, Centre hospitalier de l'Université de Montréal, Montreal, Quebec, Canada.
authors: Isabelle
authors: I
authors: Bourdeau
mesh_terms: D000310:Adrenal Gland Neoplasms / Q000175:diagnosis*; D000328:Adult; D000367:Age Factors; D015331:Cohort Studies; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D008875:Middle Aged; D009456:Neurofibromatosis 1 / Q000150:complications*; D010673:Pheochromocytoma / Q000175:diagnosis*; D012189:Retrospective Studies