Congenital Hepatoblastoma and Beckwith-Wiedemann Syndrome. Issue 8 (November 2020)

• Record Type: Journal Article
• Authors: Zivot, Andrea; Edelman, Morris; Glick, Richard; Hong, Andrew; Fish, Jonathan D.
• Is Part Of: Journal of pediatric hematology/oncology. Volume 42:Issue 8(2020)
• Publication Date: 2020-11
• Subjects: hepatoblastoma -- Beckwith-Wiedemann syndrome -- congenital -- genetic imprinting; Pediatric hematology -- Periodicals; Tumors in children -- Periodicals; 618.9215
• DOI: 10.1097/MPH.0000000000001565
• Languages: English
• ISSNs: 1077-4114

Abstract

Abstract : Following the discovery of a fetal hepatic tumor, labor was induced at 38 weeks, and a phenotypically normal female was delivered vaginally. A serum alpha-fetoprotein level at birth was 373, 170 ng/mL. Postnatal magnetic resonance imaging confirmed a mass in the right lobe of the liver, and a percutaneous core biopsy revealed an epithelial type hepatoblastoma with predominantly embryonal histology. Methylation testing revealed hypomethylation at imprinting center 2, consistent with a diagnosis of Beckwith-Wiedemann syndrome. This case suggests that Beckwith-Wiedemann syndrome testing should be considered in all patients with hepatoblastoma, even in the absence of other phenotypic stigmata.