Hepatoblastoma in a Noonan syndrome patient with a  PTPN11  mutation | Zendy

Yoshida Rie | Zendy; Ogata Tsutomu | Zendy; Masawa Nobuhide | Zendy; Nagai Toshiro | Zendy

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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.

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