Hepatoblastoma in a patient with sotos syndrome

J Pediatr. 2009 Dec;155(6):937-9. doi: 10.1016/j.jpeds.2009.06.039.

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology*
  • Aneuploidy
  • Chromosome Deletion
  • Growth Disorders / complications
  • Growth Disorders / genetics
  • Growth Disorders / pathology*
  • Hepatoblastoma / diagnosis
  • Hepatoblastoma / genetics*
  • Hepatoblastoma / therapy
  • Histone Methyltransferases
  • Histone-Lysine N-Methyltransferase
  • Humans
  • Infant
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Liver Neoplasms / diagnosis
  • Liver Neoplasms / genetics*
  • Liver Neoplasms / therapy
  • Male
  • Nuclear Proteins / genetics*
  • Polymorphism, Single Nucleotide / genetics
  • Syndrome

Substances

  • Intracellular Signaling Peptides and Proteins
  • Nuclear Proteins
  • Histone Methyltransferases
  • Histone-Lysine N-Methyltransferase
  • NSD1 protein, human