title: A case of 3p deletion syndrome associated with cerebellar hemangioblastoma.
abstract: We described clinical course of a 24-year-old woman with 3p deletion syndrome associated with cerebellar hemangioblastoma at the age of 16 years old. She presented dysmorphic facial features, growth retardation and severe psychomotor retardation associated with 3p deletion syndrome. We identified de novo 3p deletion encompassing p25 by using array-based comparative genomic hybridization, where causative gene of von Hippel-Lindau (VHL) disease located. Surgical therapy for cerebellar hemangioblastoma was performed, and histological examination was consistent in cerebellar hemangioblastoma. She showed no other tumors associated VHL disease till 24 years old. This is the first case report of a patient with 3p deletion syndrome whose cerebellar hemangioblastoma may be associated with VHL disease. Repeat imaging studies were recommended for the patients with 3p deletion syndrome.
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
authors.forename: Sato
authors.initials: S
authors.lastname: Suzuki-Muromoto
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan; Center for Genomic Medicine, Tohoku University Hospital, Sendai, Japan. Electronic address: naomi-h@zc4.so-net.ne.jp.
authors.forename: Naomi
authors.initials: N
authors.lastname: Hino-Fukuyo
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan; Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan.
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Haginoya
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
authors.forename: Atsuo
authors.initials: A
authors.lastname: Kikuchi
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
authors.forename: Hiroki
authors.initials: H
authors.lastname: Sato
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
authors.forename: Yuko
authors.initials: Y
authors.lastname: Sato
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
authors.forename: Tojo
authors.initials: T
authors.lastname: Nakayama
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
authors.forename: Yuki
authors.initials: Y
authors.lastname: Kubota
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
authors.forename: Yosuke
authors.initials: Y
authors.lastname: Kakisaka
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
authors.forename: Mitsugu
authors.initials: M
authors.lastname: Uematsu
authors.affiliation: (d)Department of Neurosurgery, Tohoku University School of Medicine, Sendai, Japan.
authors.forename: Toshihiro
authors.initials: T
authors.lastname: Kumabe
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
authors.forename: Shigeo
authors.initials: S
authors.lastname: Kure
mesh_terms: D002528:Cerebellar Neoplasms / Q000235:genetics*; D002872:Chromosome Deletion; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D055028:Comparative Genomic Hybridization; D005260:Female; D018325:Hemangioblastoma / Q000235:genetics*; D006801:Humans; D055815:Young Adult; D006623:von Hippel-Lindau Disease
keywords: 3p deletion syndrome; Cerebellar hemangioblastoma; Hemangioblastoma; von Hippel–Lindau disease