title: Phaeochromocytoma associated with a de novo VHL mutation as form fruste of von Hippel-Lindau disease.
abstract: Phaeochromocytomas usually occur sporadically but may be associated with dominant inherited cancer syndromes such as multiple endocrine neoplasia type 2 (MEN 2), von Hippel-Lindau disease (VHL) and type 1 neurofibromatosis. We report on a boy presenting at age 8 years with an isolated benign phaeochromocytoma of the left adrenal. Three years later a second adrenal phaeochromocytoma was diagnosed on the right side and removed. His family history was negative. Genetic analysis did not show a mutation in the MEN 2 susceptible proto-oncogene rearranged during transfection; however, we found a germline missense mutation in the VHL gene (nucleotide 695 G to A transversion) which has been described only twice before in the literature. Both parents had normal (wild type) VHL copies indicating that our patient had a de novo germline VHL mutation. Careful clinical evaluation of the patient at 18 years did not reveal any other manifestations of VHL disease.
  
  
  CONCLUSIONS
  Carriers of von Hippel-Lindau germline mutations can present with a form fruste of von Hippel-Lindau disease presenting initially with unilateral phaeochromocytoma and therefore mutation analysis should be carried out.
authors.affiliation: Division of Paediatric Endocrinology, University Hospital for Children and Adolescents, Loschgestrasse 15, 91054 Erlangen, Germany. HGDoerr@kinder.imed.uni-erlangen.de
authors.forename: S
authors.initials: S
authors.lastname: Frenzel
authors.forename: T W
authors.initials: TW
authors.lastname: Apel
authors.forename: P H
authors.initials: PH
authors.lastname: Heidemann
authors.forename: K
authors.initials: K
authors.lastname: Zerres
authors.forename: H P
authors.initials: HP
authors.lastname: Neumann
authors.forename: H G
authors.initials: HG
authors.lastname: Dörr
mesh_terms: D000310:Adrenal Gland Neoplasms / Q000150:complications* / Q000235:genetics* / Q000601:surgery; D000315:Adrenalectomy; D002648:Child; D005500:Follow-Up Studies; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D010673:Pheochromocytoma / Q000150:complications* / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D000090063:Proto-Oncogene Mas; D018570:Risk Assessment; D014057:Tomography, X-Ray Computed; D006623:von Hippel-Lindau Disease / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*