title: Alagille syndrome and nephroblastoma: Unusual coincidence of two rare disorders.
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.
authors.affiliation: Institut Curie, Département de Pédiatrie, Paris F-75246, France. franck.bourdeaut@curie.fr
authors.forename: Franck
authors.initials: F
authors.lastname: Bourdeaut
authors.forename: Anne
authors.initials: A
authors.lastname: Guiochon-Mantel
authors.forename: Monique
authors.initials: M
authors.lastname: Fabre
authors.forename: Hélène
authors.initials: H
authors.lastname: Martelli
authors.forename: Catherine
authors.initials: C
authors.lastname: Patte
authors.forename: Gilda
authors.initials: G
authors.lastname: Porta
authors.forename: Olivier
authors.initials: O
authors.lastname: Bernard
authors.forename: Olivier
authors.initials: O
authors.lastname: Delattre
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Jacquemin
mesh_terms: D016738:Alagille Syndrome / Q000235:genetics* / Q000473:pathology*; D002135:Calcium-Binding Proteins / Q000235:genetics; D002675:Child, Preschool; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics; D000072100:Jagged-1 Protein; D007680:Kidney Neoplasms / Q000235:genetics / Q000473:pathology*; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation; D009693:Nucleic Acid Hybridization; D000072099:Serrate-Jagged Proteins; D009396:Wilms Tumor / Q000235:genetics* / Q000473:pathology*
chemical_list: D002135:Calcium-Binding Proteins; D036341:Intercellular Signaling Peptides and Proteins; C000606273:JAG1 protein, human; D000072100:Jagged-1 Protein; D008565:Membrane Proteins; D000072099:Serrate-Jagged Proteins