Title
Congenital Hepatoblastoma and Beckwith-Wiedemann Syndrome
Publication Date
2019
Journal Title
J Pediatr Hematol Oncol
Abstract
© 2019 Wolters Kluwer Health, Inc. All rights reserved. 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.
Document Type
Article
Status
Faculty
Facility
School of Medicine
Primary Department
General Pediatrics
Additional Departments
Pathology and Laboratory Medicine; Surgery
PMID
DOI
10.1097/MPH.0000000000001565