title: A huge intraventricular congenital anaplastic astrocytoma: case report with histopathological and genetic consideration.
abstract: Congenital malignant gliomas are rare brain tumors about which few reports have been published. We present the clinical course and genetic alterations in an infant with a congenital malignant glioma detected incidentally by ultrasonography at 36 weeks. The tumor occupied the right temporoparietal region, extended to the posterior fossa, and significantly compressed surrounding structures. The female infant was entirely normal without macrocrania, tense fontanel, or sucking difficulties. The tumor was subtotally resected by two-stage surgery; pathological diagnosis was anaplastic astrocytoma. Immunohistochemical staining was positive for p53 and negative for epidermal growth factor receptor. There was no O(6)-methylguanine-DNA methyltransferase (MGMT) gene promoter methylation, no 1p/19q loss of heterozygosity, and no isocitrate dehydrogenase 1 (IDH1) mutation. She underwent postoperative chemotherapy and is alive and well 12 months after surgery.
authors.affiliation: Division of Neurosurgery, Department of Clinical Neuroscience, University of Miyazaki, Kiyotake, Miyazaki, Japan. shinjiy@fc.miyazaki-u.ac.jp
authors.forename: Shinji
authors.initials: S
authors.lastname: Yamashita
authors.forename: Shinitsu
authors.initials: S
authors.lastname: Ryu
authors.forename: Shiro
authors.initials: S
authors.lastname: Miyata
authors.forename: Syunrou
authors.initials: S
authors.lastname: Uchinokura
authors.forename: Kiyotaka
authors.initials: K
authors.lastname: Yokogami
authors.forename: Hisao
authors.initials: H
authors.lastname: Uehara
authors.forename: Sayaka
authors.initials: S
authors.lastname: Moriguchi
authors.forename: Takashi
authors.initials: T
authors.lastname: Iwakiri
authors.forename: Kousuke
authors.initials: K
authors.lastname: Marutsuka
authors.forename: Makoto
authors.initials: M
authors.lastname: Ikenoue
authors.forename: Daisuke
authors.initials: D
authors.lastname: Sawa
authors.forename: Naoshi
authors.initials: N
authors.lastname: Yamada
authors.forename: Yuki
authors.initials: Y
authors.lastname: Kodama
authors.forename: Hideo
authors.initials: H
authors.lastname: Takeshima
mesh_terms: D000328:Adult; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D001254:Astrocytoma / Q000151:congenital* / Q000235:genetics* / Q000628:therapy; D001932:Brain Neoplasms / Q000151:congenital* / Q000235:genetics* / Q000628:therapy; D016190:Carboplatin / Q000008:administration & dosage; D003131:Combined Modality Therapy; D019175:DNA Methylation; D015254:DNA Modification Methylases / Q000235:genetics; D045643:DNA Repair Enzymes / Q000235:genetics; D005047:Etoposide / Q000008:administration & dosage; D005260:Female; D006801:Humans; D033162:Incidental Findings; D007231:Infant, Newborn; D007521:Isocitrate Dehydrogenase / Q000235:genetics; D019635:Neurosurgical Procedures; D011247:Pregnancy; D011401:Promoter Regions, Genetic / Q000235:genetics; D025521:Tumor Suppressor Proteins / Q000235:genetics; D016216:Ultrasonography, Prenatal
chemical_list: D025521:Tumor Suppressor Proteins; D005047:Etoposide; D016190:Carboplatin; D007521:Isocitrate Dehydrogenase; C543588:IDH1 protein, human; D015254:DNA Modification Methylases; C515491:MGMT protein, human; D045643:DNA Repair Enzymes