| Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation. | |
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MedLine Citation:
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PMID: 18253957 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Rie Yoshida; Tsutomu Ogata; Nobuhide Masawa; Toshiro Nagai |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Pediatric blood & cancer Volume: 50 ISSN: 1545-5017 ISO Abbreviation: Pediatr Blood Cancer Publication Date: 2008 Jun |
Date Detail:
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Created Date: 2008-04-08 Completed Date: 2008-05-06 Revised Date: 2009-01-12 |
Medline Journal Info:
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Nlm Unique ID: 101186624 Medline TA: Pediatr Blood Cancer Country: United States |
Other Details:
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Languages: eng Pagination: 1274-6 Citation Subset: IM |
Copyright Information:
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(c) 2007 Wiley-Liss, Inc. |
Affiliation:
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Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Follow-Up Studies Germ-Line Mutation Hepatoblastoma / complications, genetics* Heterozygote Humans Infant Male Mutation* Mutation, Missense Noonan Syndrome / complications*, genetics* Protein Tyrosine Phosphatase, Non-Receptor Type 11 / genetics* |
| Chemical | |
Reg. No./Substance:
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EC 3.1.3.48/Protein Tyrosine Phosphatase, Non-Receptor Type 11 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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