title: Hepatoblastoma in a patient with sotos syndrome.
abstract: We report a case of hepatoblastoma that developed in a child with Sotos syndrome, an overgrowth syndrome with an increased risk of neoplasms. Genome-wide analysis of copy number alterations showed a gain of chromosome 2, uniparental disomy of 18q, and microdeletion of 5q35.
authors.affiliation: Department of Pediatrics, Graduate school of Medicine, University of Tokyo, Tokyo, Japan.
authors.forename: Motohiro
authors.initials: M
authors.lastname: Kato
authors.forename: Junko
authors.initials: J
authors.lastname: Takita
authors.forename: Kan
authors.initials: K
authors.lastname: Takahashi
authors.forename: Masakazu
authors.initials: M
authors.lastname: Mimaki
authors.forename: Yuyan
authors.initials: Y
authors.lastname: Chen
authors.forename: Katsuyoshi
authors.initials: K
authors.lastname: Koh
authors.forename: Kohmei
authors.initials: K
authors.lastname: Ida
authors.forename: Akira
authors.initials: A
authors.lastname: Oka
authors.forename: Masashi
authors.initials: M
authors.lastname: Mizuguchi
authors.forename: Seishi
authors.initials: S
authors.lastname: Ogawa
authors.forename: Takashi
authors.initials: T
authors.lastname: Igarashi
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000782:Aneuploidy; D002872:Chromosome Deletion; D006130:Growth Disorders / Q000150:complications / Q000235:genetics / Q000473:pathology*; D018197:Hepatoblastoma / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D007223:Infant; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008113:Liver Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D013577:Syndrome
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; C113272:NSD1 protein, human