Hepatoblastoma

Hepatoblastoma is the most common malignant liver tumor of childhood, typically arising from immature hepatocyte precursor cells. It predominantly affects infants and young children, with the majority of cases diagnosed before the age of 3 years. The tumor originates in the liver and can present as an abdominal mass or swelling, often detected incidentally by a parent or during a routine examination. Key clinical features include abdominal distension, a palpable right upper quadrant mass, failure to thrive, weight loss, anorexia, nausea, and vomiting. Serum alpha-fetoprotein (AFP) levels are markedly elevated in approximately 90% of cases and serve as an important diagnostic and monitoring biomarker. In rare cases, hepatoblastoma may produce beta-human chorionic gonadotropin (β-hCG), leading to precocious puberty in boys. Hepatoblastoma is classified histologically into epithelial and mixed epithelial-mesenchymal subtypes. The disease primarily affects the hepatobiliary system but can metastasize, most commonly to the lungs. Several predisposing conditions have been identified, including Beckwith-Wiedemann syndrome, familial adenomatous polyposis (FAP, associated with APC gene mutations), trisomy 18, and very low birth weight or prematurity. Somatic mutations in the CTNNB1 gene (encoding beta-catenin) and aberrant activation of the Wnt signaling pathway are frequently observed in tumor tissue. The current treatment approach involves a combination of surgical resection and chemotherapy. Preoperative (neoadjuvant) chemotherapy using cisplatin-based regimens is commonly employed to reduce tumor size and facilitate complete surgical removal. Complete resection of the tumor is essential for cure. For unresectable tumors or cases with extensive disease, liver transplantation may be considered and has shown favorable outcomes. Risk stratification systems such as PRETEXT (PRE-Treatment EXTent of disease) guide treatment intensity. With modern multimodal therapy, overall survival rates for hepatoblastoma have improved significantly, exceeding 80% for standard-risk disease, though outcomes for advanced or metastatic disease remain more guarded.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

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