Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation

Pediatr Blood Cancer. 2008 Jun;50(6):1274-6. doi: 10.1002/pbc.21509.

Abstract

Although Noonan syndrome (NS) is occasionally associated with embryonal solid tumors, there has been no report of hepatoblastoma in NS. We identified hepatoblastoma spreading into bilateral hepatic lobes in a 1-month-old NS patient with a heterozygous PTPN11 mutation (Asn308Asp). This finding suggests the potential relevance of constitutively activated RAS/MAPK signaling in the development of hepatoblastoma.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Follow-Up Studies
  • Germ-Line Mutation
  • Hepatoblastoma / complications
  • Hepatoblastoma / genetics*
  • Heterozygote
  • Humans
  • Infant
  • Male
  • Mutation*
  • Mutation, Missense
  • Noonan Syndrome / complications*
  • Noonan Syndrome / genetics*
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11 / genetics*

Substances

  • Protein Tyrosine Phosphatase, Non-Receptor Type 11