title: Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation.
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.
authors.affiliation: Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan.
authors.forename: Rie
authors.initials: R
authors.lastname: Yoshida
authors.forename: Tsutomu
authors.initials: T
authors.lastname: Ogata
authors.forename: Nobuhide
authors.initials: N
authors.lastname: Masawa
authors.forename: Toshiro
authors.initials: T
authors.lastname: Nagai
mesh_terms: D000293:Adolescent; D005500:Follow-Up Studies; D018095:Germ-Line Mutation; D018197:Hepatoblastoma / Q000150:complications / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D009634:Noonan Syndrome / Q000150:complications* / Q000235:genetics*; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11 / Q000235:genetics*
chemical_list: D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11