Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation.

Abstract excerpt

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.

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Follow-Up Studies
• Share to Germ-Line Mutation
• Share to Hepatoblastoma