title: Neonatal hepatoblastoma in a newborn with severe phenotype of Beckwith-Wiedemann syndrome.
abstract: Beckwith-Wiedemann syndrome is an overgrowth disorder characterized by neonatal macrosomia, abdominal wall defects, macroglossia, renal anomalies, organomegaly, hypoglycemia, and cancer predisposition. Hepatoblastoma is the second most frequent tumor and periodic serum alpha-fetoprotein (αFP) dosage is the cornerstone of the tumor surveillance for its early detection. In this report, we describe the outstanding case of a Beckwith-Wiedemann syndrome (BWS) newborn with severe phenotype and paternal chromosome 11 uniparental disomy (UPD11) associated with a high tumor risk. Based on the clinical picture and previous reports, a close monitoring of αFP was commenced. The marker was normal immediately after birth, but rapidly raised in 20 days, leading to the diagnosis of an extremely aggressive hepatoblastoma. The latter was successfully treated with pre-surgical reductive chemotherapy, gross total mass resection, and subsequent chemotherapy. Based on this observation, the tumor surveillance routinely suggested every 3 months should be more intense and with closer time intervals in newborns with severe BWS phenotype. We suggest monitoring neonatal αFP every 20 days in such cases.
authors: Department of Pediatrics, University of Torino, Piazza Polonia 94, 10126 Turin, Italy. mussa_alessandro@yahoo.it
authors: Alessandro
authors: A
authors: Mussa
authors: Giovanni Battista
authors: GB
authors: Ferrero
authors: Barbara
authors: B
authors: Ceoloni
authors: Eleonora
authors: E
authors: Basso
authors: Nicoletta
authors: N
authors: Chiesa
authors: Agostina
authors: A
authors: De Crescenzo
authors: Ernesto
authors: E
authors: Pepe
authors: Margherita
authors: M
authors: Silengo
authors: Luisa
authors: L
authors: de Sanctis
mesh_terms: D001506:Beckwith-Wiedemann Syndrome / Q000235:genetics; D050761:Cyclin-Dependent Kinase Inhibitor p57 / Q000378:metabolism; D020022:Genetic Predisposition to Disease; D018197:Hepatoblastoma / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007335:Insulin-Like Growth Factor II / Q000378:metabolism; D008113:Liver Neoplasms / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D000509:alpha-Fetoproteins / Q000378:metabolism*
chemical_list: D050761:Cyclin-Dependent Kinase Inhibitor p57; D000509:alpha-Fetoproteins; D007335:Insulin-Like Growth Factor II