title: IDH2 and TP53 mutations are correlated with gliomagenesis in a patient with Maffucci syndrome.
abstract: We report on a 24-year-old woman who was diagnosed as having Maffucci syndrome with anaplastic astrocytoma. We analyzed the IDH1 and IDH2 mutations of enchondroma, hemangioma and anaplastic astrocytoma tissues and the same somatic mosaic mutation in IDH2 gene was identified in all these tissues. In addition, we identified additional mutation of the TP53 gene in anaplastic astrocytoma tissue but not in other benign tumors. This is the first report of the detection of an identical IDH2 mutation in multiple tissues and TP53 mutation in anaplastic astrocytoma in a patient with Maffucci syndrome. This case is unique and supports the IDH2-dependent genetic pathway and second-hit model for gliomagenesis.
authors.affiliation: Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.
authors.forename: Kunihiko
authors.initials: K
authors.lastname: Moriya
authors.forename: Mika K
authors.initials: MK
authors.lastname: Kaneko
authors.forename: Xing
authors.initials: X
authors.lastname: Liu
authors.forename: Masami
authors.initials: M
authors.lastname: Hosaka
authors.forename: Fumiyoshi
authors.initials: F
authors.lastname: Fujishima
authors.forename: Jun
authors.initials: J
authors.lastname: Sakuma
authors.forename: Satoshi
authors.initials: S
authors.lastname: Ogasawara
authors.forename: Mika
authors.initials: M
authors.lastname: Watanabe
authors.forename: Yoji
authors.initials: Y
authors.lastname: Sasahara
authors.forename: Shigeo
authors.initials: S
authors.lastname: Kure
authors.forename: Yukinari
authors.initials: Y
authors.lastname: Kato
mesh_terms: D001254:Astrocytoma / Q000000981:diagnostic imaging* / Q000235:genetics / Q000628:therapy; D001483:Base Sequence; D001932:Brain Neoplasms / Q000000981:diagnostic imaging* / Q000235:genetics / Q000628:therapy; D004252:DNA Mutational Analysis; D004687:Enchondromatosis / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D006391:Hemangioma / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007521:Isocitrate Dehydrogenase / Q000235:genetics*; D020125:Mutation, Missense; D011859:Radiography; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*; D055815:Young Adult
chemical_list: C495901:TP53 protein, human; D016159:Tumor Suppressor Protein p53; C538784:IDH2 protein, human; D007521:Isocitrate Dehydrogenase
keywords: Anaplastic astrocytoma; IDH2 mutation; Maffucci syndrome; TP53; gliomagenesis