Related Experiment Video
Updated: Jul 30, 2026
Isolation of Neonatal Extrahepatic Cholangiocytes
Published on: June 5, 2014
Hepatocellular Adenoma in an Infant With Burn-McKeown Syndrome: Report of a Case
Iván A González1, Lea F Surrey1, Pierre Russo1
1Department of Pathology and Laboratory Medicine, 6567Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Insights
This study reports the youngest case of an unclassified hepatocellular adenoma (U-HCA) in a 9-month-old infant. The findings suggest that some HCAs may be congenital or develop very early in life.
Area of Science:
- Hepatobiliary pathology
- Pediatric oncology
- Tumor classification
Background:
- Hepatocellular adenomas (HCAs) are rare liver tumors, with infantile cases being exceptionally uncommon.
- Previous reports of infant HCAs predate current classification systems.
Observation:
- An autopsy case of a 9-month-old girl with Burn-McKeown syndrome revealed an incidental 1.5 cm liver nodule.
- Histopathological examination showed features consistent with HCA, including hepatocyte proliferation and abnormal vasculature.
Findings:
- Immunohistochemistry revealed diffuse Glutamine Synthetase (GS) positivity and heterogeneous CD34 staining.
- Molecular testing identified tier 3 variants in CHEK2 and PTEN, with no CTNNB1 variants.
- The lesion was classified as an unclassified HCA (U-HCA) according to the 2019 WHO Classification.
Implications:
- This case represents the youngest patient diagnosed with U-HCA, challenging current understanding of HCA development.
- The findings suggest a potential congenital origin or very early development of some HCAs.
- Further research is needed to explore the early-life origins and long-term implications of infantile HCAs.
Abstract:
Hepatocellular adenomas (HCA) in infants are exceedingly rare with only 5 cases reported to the best of our knowledge, all of them preceding the classification of HCA. Here we present an autopsy case of a 9-month-old girl with Burn-McKeown syndrome with an incidental liver nodule in the right lobe measuring 1.5 cm in greatest dimension. The lesion was composed of an unencapsulated proliferation of hepatocytes with multiple unaccompanied arteries without well-formed portal tracts, and an intact reticulin framework without thickened hepatic plates, findings consistent with an HCA. Glutamine synthetase (GS), lipid fatty acid-binding protein (LFABP), c-reactive protein (CRP), serum amyloid-a (SAA), beta-catenin and CD34 immunostains were performed. GS was diffusely and strongly positive in the lesion, CD34 showed heterogenous staining of sinusoids within the lesion without a well-formed rim from the background liver and beta-catenin was negative for nuclear staining. CRP and SAA were considered negative, and LFABP was retained. Molecular testing showed no CTNNB1 variants and found two tier 3 variants involving CHEK2 and PTEN genes. These findings are consistent with an unclassified HCA (U-HCA) per the 2019 WHO Classification of Tumors, representing the youngest patient reported. This raises the possibility that some HCAs are congenital or develop very early in life, remaining undiagnosed until later in life.
