Alagille syndrome and nephroblastoma: Unusual coincidence of two rare disorders

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dc.contributor.author Bourdeaut, Franck
dc.contributor.author Guiochon-Mantel, Anne
dc.contributor.author Fabre, Monique
dc.contributor.author Martelli, Helene
dc.contributor.author Patte, Catherine
dc.contributor.author Porta, Gilda
dc.contributor.author Bernard, Olivier
dc.contributor.author Delattre, Olivier
dc.contributor.author Jacquemin, Emmanuel
dc.date.accessioned 2016-01-24T13:49:42Z
dc.date.available 2016-01-24T13:49:42Z
dc.date.issued 2008-04-01
dc.identifier http://dx.doi.org/10.1002/pbc.21255
dc.identifier.citation Pediatric Blood & Cancer. Hoboken: Wiley-liss, v. 50, n. 4, p. 908-911, 2008.
dc.identifier.issn 1545-5009
dc.identifier.uri http://repositorio.unifesp.br/handle/11600/30548
dc.description.abstract Alagille syndrome is a rare developmental disorder combining bile duct paucity, congenital cardiopathy, facial dysmorphy, vertebrae defects, and ocular abnormalities; and frequent renal abnormalities. It does not usually predispose to malignancies. Nephroblastoma has been observed in many developmental disorders, but never in Alagille syndrome. We report two original cases of nephroblastoma associated to Alagille syndrome. We identified a new V136G JAG1 missense mutation in one patient and a constitutional deletion of 20p12 in the other. in one nephroblastoma an additional somatic 1p36 deletion was present. the link between Alagille syndrome, JAG1 alterations and nephroblastoma is discussed. en
dc.format.extent 908-911
dc.language.iso eng
dc.publisher Wiley-Blackwell
dc.relation.ispartof Pediatric Blood & Cancer
dc.rights Acesso restrito
dc.subject alagille en
dc.subject JAG1 en
dc.subject nephroblastoma en
dc.subject NOTCH en
dc.subject 1p en
dc.title Alagille syndrome and nephroblastoma: Unusual coincidence of two rare disorders en
dc.type Artigo
dc.rights.license http://olabout.wiley.com/WileyCDA/Section/id-406071.html
dc.contributor.institution Inst Curie
dc.contributor.institution Grp Hosp Bicetre
dc.contributor.institution Inst Gustave Roussy
dc.contributor.institution Universidade Federal de São Paulo (UNIFESP)
dc.description.affiliation Inst Curie, INSERM, U830, Unite Genet & Biol Canc,Dept Pediat, F-75246 Paris 05, France
dc.description.affiliation Inst Curie, INSERM, U830, Unite Genet & Biol Canc, F-75005 Paris, France
dc.description.affiliation Grp Hosp Bicetre, AP HP, Genet Mol Lab, IFR93, Le Kremlin Bicetre, France
dc.description.affiliation Grp Hosp Bicetre, AP HP, Serv Anat & Cytol Pathol, Le Kremlin Bicetre, France
dc.description.affiliation Grp Hosp Bicetre, AP HP, Serv Chirurg Pediat, Le Kremlin Bicetre, France
dc.description.affiliation Inst Gustave Roussy, Dept Pediat, Villejuif, France
dc.description.affiliation Univ São Paulo, Dept Pediat, São Paulo, Brazil
dc.description.affiliation Grp Hosp Bicetre, AP HP, Serv Hepatol Pediat, Le Kremlin Bicetre, France
dc.identifier.doi 10.1002/pbc.21255
dc.description.source Web of Science
dc.identifier.wos WOS:000253661200047



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