Please use this identifier to cite or link to this item: http://hdl.handle.net/11455/40396
DC FieldValueLanguage
dc.contributor.authorLin, M.T.en_US
dc.contributor.author謝政哲zh_TW
dc.contributor.authorShie, J.J.en_US
dc.contributor.authorChang, J.H.M.en_US
dc.contributor.authorChang, S.W.en_US
dc.contributor.authorChen, T.C.en_US
dc.contributor.authorHsu, W.H.en_US
dc.date2009zh_TW
dc.date.accessioned2014-06-06T08:03:42Z-
dc.date.available2014-06-06T08:03:42Z-
dc.identifier.issn1545-5009zh_TW
dc.identifier.urihttp://hdl.handle.net/11455/40396-
dc.description.abstractWe report ail early detection of cancer in a child with Li-Fraumeni syndrome. The proband was a 3-year-old male with a primitive mesenchymal tumor. Genetic analysis showed a germline TP53 mutation in codon 220 exon 6, which changed TAT -> TGT and resulted in a tyrosine-to-cysteine amino acid substitution (Tyr220Cys). The younger Sister at risk was followed, and an asymptomatic adrenal cortical carcinoma was detected 3 years later. The report highlights the importance of genetic counseling and provides an example of early detection of cancers in childhood LFS carriers. Pediatr Blood Cancer 2009;52:-541-544 (C) 2008 Wiley-Liss, Inc.en_US
dc.language.isoen_USzh_TW
dc.relationPediatric Blood & Canceren_US
dc.relation.ispartofseriesPediatric Blood & Cancer, Volume 52, Issue 4, Page(s) 541-544.en_US
dc.relation.urihttp://dx.doi.org/10.1002/pbc.21836en_US
dc.subjectcarrier screenen_US
dc.subjectchildhooden_US
dc.subjectgenetic counselingen_US
dc.subjectLi-Fraumeni syndromeen_US
dc.subjectp53en_US
dc.subjectmutationen_US
dc.subjectbreast-canceren_US
dc.subjectfamilial syndromeen_US
dc.subjectp53 mutationsen_US
dc.subjectrisken_US
dc.subjectmrien_US
dc.subjecttomographyen_US
dc.subjectneoplasmsen_US
dc.subjectsarcomasen_US
dc.subjectsystemen_US
dc.subjectwomenen_US
dc.titleEarly Detection of Adrenocortical Carcinoma in a Child With Li-Fraumeni Syndromeen_US
dc.typeJournal Articlezh_TW
dc.identifier.doi10.1002/pbc.21836zh_TW
item.languageiso639-1en_US-
item.cerifentitytypePublications-
item.grantfulltextnone-
item.openairetypeJournal Article-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.fulltextno fulltext-
Appears in Collections:生物醫學研究所
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