Document Detail

Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation.
MedLine Citation:
PMID:  18253957     Owner:  NLM     Status:  MEDLINE    
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.
Rie Yoshida; Tsutomu Ogata; Nobuhide Masawa; Toshiro Nagai
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric blood & cancer     Volume:  50     ISSN:  1545-5017     ISO Abbreviation:  Pediatr Blood Cancer     Publication Date:  2008 Jun 
Date Detail:
Created Date:  2008-04-08     Completed Date:  2008-05-06     Revised Date:  2009-01-12    
Medline Journal Info:
Nlm Unique ID:  101186624     Medline TA:  Pediatr Blood Cancer     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1274-6     Citation Subset:  IM    
Copyright Information:
(c) 2007 Wiley-Liss, Inc.
Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan.
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MeSH Terms
Follow-Up Studies
Germ-Line Mutation
Hepatoblastoma / complications,  genetics*
Mutation, Missense
Noonan Syndrome / complications*,  genetics*
Protein Tyrosine Phosphatase, Non-Receptor Type 11 / genetics*
Reg. No./Substance:
EC Tyrosine Phosphatase, Non-Receptor Type 11

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