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Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation
Author(s) -
Yoshida Rie,
Ogata Tsutomu,
Masawa Nobuhide,
Nagai Toshiro
Publication year - 2008
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.21509
Subject(s) - hepatoblastoma , ptpn11 , noonan syndrome , medicine , blood cancer , mutation , cancer research , mapk/erk pathway , pathology , cancer , kinase , genetics , gene , colorectal cancer , biology , kras
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. Pediatr Blood Cancer 2008;50:1274–1276. © 2008 Wiley‐Liss, Inc.