title: Should genetic testing be performed in each patient with sporadic pheochromocytoma at presentation?
abstract: BACKGROUND
  According to previous studies, around 15% of patients with an apparently sporadic pheochromocytoma and a negative family history had a hereditary disease. This high frequency together with the financial support provided to reference laboratories of molecular genetics by the French government led to a nearly systematic screening in each patient with a pheochromocytoma.
  
  
  OBJECTIVE
  To check the efficiency of systematic genetic screening in patients with apparently sporadic pheochromocytoma, by analysing the 6 years experience of a multidisciplinary team in this field.
  
  
  METHODS
  One hundred patients with a pheochromocytoma-only phenotype and no family history were included. Patients with extra-adrenal tumours were excluded. Prevalence of hereditary forms was determined and analyzed according to age at onset, sex. Cost of the genetic analysis was calculated.
  
  
  RESULTS
  A germline mutation in one of the five susceptibility genes (VHL, RET, SDHD, SDHC, SDHB) was identified in eight patients (8%) with an age of onset between 13 and 57 years. Among them, six had a bilateral pheochromocytoma and only two had a unilateral tumour. If the guidelines for genetic screening were age of onset less than 50 or bilateral pheochromocytoma, no patients with a hereditary tumour would be missed and a 24% cost reduction would be achieved.
  
  
  CONCLUSIONS
  According to these data, a genetic predisposition test for hereditary pheochromocytoma seems not recommended in patients with a unilateral adrenal tumour diagnosed after 50 in the absence of familial, clinical, biological or imaging features for a familial disease.
authors.affiliation: Laboratoire de Biochimie Hormonologie, Métabolisme-Nutrition, Oncologie, Centre de Biologie et Pathologie, CHRU de Lille, France. p-pigny@chru-lille.fr
authors.forename: Pascal
authors.initials: P
authors.lastname: Pigny
authors.forename: Catherine
authors.initials: C
authors.lastname: Cardot-Bauters
authors.forename: Christine
authors.initials: C
authors.lastname: Do Cao
authors.forename: Marie Christine
authors.initials: MC
authors.lastname: Vantyghem
authors.forename: Bruno
authors.initials: B
authors.lastname: Carnaille
authors.forename: François
authors.initials: F
authors.lastname: Pattou
authors.forename: Philippe
authors.initials: P
authors.lastname: Caron
authors.forename: Jean-Louis
authors.initials: JL
authors.lastname: Wemeau
authors.forename: Nicole
authors.initials: N
authors.lastname: Porchet
mesh_terms: D000293:Adolescent; D000310:Adrenal Gland Neoplasms / Q000453:epidemiology / Q000235:genetics*; D000328:Adult; D017668:Age of Onset; D003362:Cost-Benefit Analysis; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology; D005820:Genetic Testing / Q000191:economics*; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D010673:Pheochromocytoma / Q000453:epidemiology / Q000235:genetics*; D015995:Prevalence; D055815:Young Adult