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

Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation.

Author information

1
Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan.

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.

PMID:
18253957
DOI:
10.1002/pbc.21509
[Indexed for MEDLINE]

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