Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation.
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.
Yoshida
Rie
R
Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan.
Ogata
Tsutomu
T
Masawa
Nobuhide
N
Nagai
Toshiro
T
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*
D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11