title: Pheochromocytoma in a 2.75-year-old-girl with a germline von Hippel-Lindau mutation Q164R.
abstract: Pheochromocytomas are rare tumors of the adrenal gland occurring sporadically or as part of familial cancer syndromes. Here we report on the case of a pheochromocytoma due to the germline missense mutation c.491A>G (Q164R) in exon 3 of the von Hippel-Lindau gene in a girl as young as 2.75 years. Extended analyses of her relatives showed that the mutation occurred de novo in the patient's father who was subsequently diagnosed with bilateral pheochromocytomas and a retinal angioma. To the best of our knowledge, this is the youngest patient presenting with pheochromocytoma so far described in the literature. The same VHL mutation has been reported in a patient who developed a pheochromocytoma at the age of 10 years; therefore, for known VHL Q164R mutation carriers, we suggest screening for pheochromocytoma beginning at 2 years of age.
authors.affiliation: Division of Pediatric Hematology/Oncology, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, Graz, Austria.
authors.forename: Petra
authors.initials: P
authors.lastname: Sovinz
authors.forename: Christian
authors.initials: C
authors.lastname: Urban
authors.forename: Sabine
authors.initials: S
authors.lastname: Uhrig
authors.forename: Vinzenz
authors.initials: V
authors.lastname: Stepan
authors.forename: Herwig
authors.initials: H
authors.lastname: Lackner
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Schwinger
authors.forename: Martin
authors.initials: M
authors.lastname: Benesch
authors.forename: Andrea
authors.initials: A
authors.lastname: Moser
authors.forename: Ekkehard
authors.initials: E
authors.lastname: Spuller
authors.forename: Michael R
authors.initials: MR
authors.lastname: Speicher
mesh_terms: D000310:Adrenal Gland Neoplasms / Q000235:genetics* / Q000473:pathology; D001483:Base Sequence; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D010673:Pheochromocytoma / Q000235:genetics* / Q000473:pathology; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics*
chemical_list: D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human