Artículos de revistas
Alagille syndrome and nephroblastoma: Unusual coincidence of two rare disorders
Fecha
2008Registro en:
PEDIATRIC BLOOD & CANCER, v.50, n.4, p.908-911, 2008
1545-5009
10.1002/pbc.21255
Autor
BOURDEAUT, Franck
GUIOCHON-MANTEL, Anne
FABRE, Monique
MARTELLI, Helene
PATTE, Catherine
PORTA, Gilda
BERNARD, Olivier
DELATTRE, Olivier
JACQUEMIN, Emmanuel
Institución
Resumen
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.