Hepatoblastoma in a patient with sotos syndrome.
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.
Kato
Motohiro
M
Department of Pediatrics, Graduate school of Medicine, University of Tokyo, Tokyo, Japan.
Takita
Junko
J
Takahashi
Kan
K
Mimaki
Masakazu
M
Chen
Yuyan
Y
Koh
Katsuyoshi
K
Ida
Kohmei
K
Oka
Akira
A
Mizuguchi
Masashi
M
Ogawa
Seishi
S
Igarashi
Takashi
T
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
D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; C113272:NSD1 protein, human