The differential diagnosis of an abdominal mass in an infant or young child includes hepatoblastoma. This rare embryonal neoplasm of the liver is linked to several congenital abnormalities and may be associated with maternal occupational exposure to metal fumes, petroleum products, or paints. Alpha-fetoprotein is a useful tumor marker that may also be elevated with hepatocellular carcinoma. The relatively better prognosis of hepatoblastoma, if completely resected, mandates its differentiation from hepatoma. The fetal subtype of hepatoblastoma seems to represent a "favorable" histology pattern.
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Virchows Arch
January 2025
Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
Liver masses are common in children, however primary malignant neoplasms are rare, representing only 1% of all pediatric cancers. Hepatocellular neoplasms are the most common primary liver malignancies and hepatoblastoma (HB) is the most frequently diagnosed. The incidence of HB, which is increasing, is approximately of 2 cases per million in the United States, followed by hepatocellular carcinoma (HCC).
View Article and Find Full Text PDFCureus
December 2024
Pediatric Surgery, Joe DiMaggio Children's Hospital, Hollywood, USA.
Hepatoblastoma is a rare pediatric cancer. Hepatoblastoma typically presents asymptomatically with an enlarging abdominal mass but can be associated with paraneoplastic secretion of beta-gonadotropin leading it to present like peripheral precocious puberty. This case highlights a rare initial presentation of hepatoblastoma as precocious puberty in a two-year-old patient who presented with persistent abdominal and genital pain.
View Article and Find Full Text PDFNat Commun
December 2024
Laboratory of Cellular Biophysics, The Rockefeller University, New York, NY, USA.
Fibrolamellar Hepatocellular Carcinoma (FLC) is a rare liver cancer characterized by a fusion oncokinase of the genes DNAJB1 and PRKACA, the catalytic subunit of protein kinase A (PKA). A few FLC-like tumors have been reported showing other alterations involving PKA. To better understand FLC pathogenesis and the relationships among FLC, FLC-like, and other liver tumors, we performed a massive multi-omics analysis.
View Article and Find Full Text PDFAm J Med Genet A
December 2024
Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy.
You-Hoover-Fong syndrome (YHFS) is a rare autosomal recessive disorder characterized by global developmental delay, microcephaly, dysmorphic facial features, and a spectrum of neurodevelopmental abnormalities. YHFS is caused by pathogenic variants in TELO2, a gene involved in regulation of the cell cycle. To date, 29 individuals with YHFS have been reported and none of them has been reported to develop tumors.
View Article and Find Full Text PDFInt J Mol Sci
December 2024
Unité Organisation Nucléaire et Oncogenèse, INSERM U993, Institut Pasteur, Université Paris Cité, 75015 Paris, France.
Hepatoblastoma is the most common primary liver malignancy in children, with metabolic reprogramming playing a critical role in its progression due to the liver's intrinsic metabolic functions. Enhanced glycolysis, glutaminolysis, and fatty acid synthesis have been implicated in hepatoblastoma cell proliferation and survival. In this study, we screened for altered overexpression of metabolic enzymes in hepatoblastoma tumors at tissue and single-cell levels, establishing and validating a hepatoblastoma tumor expression metabolic score using machine learning.
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