Related Experiment Video
Updated: Mar 6, 2026
Isolation of Neonatal Extrahepatic Cholangiocytes
Published on: June 5, 2014
Hepatic Malignancy in an Infant with Wolf-Hirschhorn Syndrome
Sara Rutter1, Raffaella A Morotti1,2, Steven Peterec2
1a Department of Pathology , Yale University School of Medicine , New Haven , Connecticut , USA.
Insights
Wolf-Hirschhorn syndrome (WHS) is linked to liver cancer. A WHS infant with cardiac issues showed signs of hepatoblastoma or hepatocellular carcinoma, suggesting a potential association requiring careful patient monitoring.
Area of Science:
- Genetics
- Pediatric Oncology
- Pathology
Background:
- Wolf-Hirschhorn syndrome (WHS) is a contiguous gene deletion syndrome affecting chromosome 4p16.
- WHS is characterized by growth failure, craniofacial abnormalities, cardiac defects, and seizures.
Observation:
- A six-month-old female infant with WHS presented with growth failure, typical craniofacial features, and complex congenital heart disease.
- Autopsy revealed two distinct hepatocellular nodular lesions with mild cytologic atypia in the liver.
Findings:
- Histologic examination and immunohistochemical staining (glutamine synthetase, glypican 3, Ki-67, CD34) were consistent with hepatoblastoma or hepatocellular carcinoma.
- The patient had a 9.8 Mb terminal deletion on chromosome 4p.
Implications:
- This case suggests a potential association between Wolf-Hirschhorn syndrome and hepatic malignancy.
- Hepatic malignancy should be considered in the clinical management and surveillance of patients with WHS.
Introduction:
Wolf-Hirschhorn syndrome (WHS) is a contiguous gene syndrome involving deletions of the chromosome 4p16 region associated with growth failure, characteristic craniofacial abnormalities, cardiac defects, and seizures.
Case Report:
This report describes a six-month-old girl with WHS with growth failure and typical craniofacial features who died of complex congenital heart disease. Genetic studies revealed a 9.8 Mb chromosome 4p-terminal deletion. At autopsy, the liver was grossly unremarkable. Routine sampling and histologic examination revealed two hepatocellular nodular lesions with expanded cell plates and mild cytologic atypia. Immunohistochemical staining revealed these nodules were positive for glutamine synthetase and glypican 3, with increased Ki-67 signaling and diffuse CD34 expression in sinusoidal endothelium. These findings are consistent with hepatoblastoma or hepatocellular carcinoma.
Conclusions:
A possible association between WHS and hepatic malignancy may be an important consideration in the care and management of WHS patients.
