Alagille syndrome and nephroblastoma: Unusual coincidence of two rare disorders

Alagille syndrome and nephroblastoma: Unusual coincidence of two rare disorders

Author Bourdeaut, Franck Google Scholar
Guiochon-Mantel, Anne Google Scholar
Fabre, Monique Google Scholar
Martelli, Helene Google Scholar
Patte, Catherine Google Scholar
Porta, Gilda Google Scholar
Bernard, Olivier Google Scholar
Delattre, Olivier Google Scholar
Jacquemin, Emmanuel Google Scholar
Institution Inst Curie
Grp Hosp Bicetre
Inst Gustave Roussy
Universidade Federal de São Paulo (UNIFESP)
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.
Keywords alagille
JAG1
nephroblastoma
NOTCH
1p
Language English
Date 2008-04-01
Published in Pediatric Blood & Cancer. Hoboken: Wiley-liss, v. 50, n. 4, p. 908-911, 2008.
ISSN 1545-5009 (Sherpa/Romeo, impact factor)
Publisher Wiley-Blackwell
Extent 908-911
Origin http://dx.doi.org/10.1002/pbc.21255
Access rights Closed access
Type Article
Web of Science ID WOS:000253661200047
URI http://repositorio.unifesp.br/handle/11600/30548

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