Pediatric Hepatoblastoma Clinical Presentation

Updated: Nov 06, 2020
  • Author: Arun A Rangaswami, MD; Chief Editor: Max J Coppes, MD, PhD, MBA  more...
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Presentation

History

Patients with hepatoblastoma are usually asymptomatic at diagnosis. Disease is advanced at diagnosis in approximately 40% of patients, and 20% have pulmonary metastases. Children with advanced disease may have anorexia.

Severe osteopenia is present in most patients and regresses with resection of the tumor. Symptoms associated with osteopenia are rare with the exception of pathologic fracture, which is often incidentally identified on routine imaging studies during evaluation of these children.

Rarely, patients in whom the tumor has ruptured present with symptoms consistent with acute abdomen. Occasionally, patients present with severe anemia resulting from tumor rupture and hemorrhage.

Family history of early onset intestinal polyps or adenocarcinoma may reveal familial adenomatous polyposis (FAP). A history of hemihypertrophy or Beckwith-Wiedemann syndrome (BWS) should prompt screening using α -fetoprotein (AFP) as a marker to detect hepatoblastoma in these patients. For such patients, AFP monitoring should be performed every 3 months until the child is aged at least 4 years. Children who survive hepatoblastoma should be considered for evaluation of FAP, and those patients found to carry an APC mutation need close surveillance because of their increased risk for colonic polyps and frank progression to adenocarcinoma.

Diagnosing primary malignant liver tumors before clinical signs and symptoms develop is important. Children with a history of chronic hepatitis B infection who have advanced liver disease should be monitored at least every 6-12 months with serum AFP levels and abdominal ultrasonography. Many children with hepatitis B infection are immunotolerant, do not have significant liver abnormalities, and are not at increased risk for liver cancer. Any child with documented cirrhosis for any reason should be periodically monitored with serum AFP level and ultrasonography because of their increased risk of developing a hepatic malignancy associated with advanced liver disease.

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Physical Examination

Hepatoblastoma is usually diagnosed as an asymptomatic abdominal mass. Approximately 10% of patients have incidental findings of hemihypertrophy.

Hepatoblastoma can be associated with isosexual precocity. Penile and testicular enlargement without pubic hair is seen in patients with tumors that secrete the β subunit of human chorionic gonadotropin (β-hCG).

Late features of BWS, such as midface hypoplasia and slitlike indentations of the earlobe, may occur, but this is rare.

Patients with BWS and those with hemihypertrophy should be monitored with serial abdominal ultrasonography and serum AFP level every 3 months until at least age 4 years; some would argue that these patients should be monitored until age 7 years because of the risk of Wilms tumor as well.

Other associated syndromes and malformations include the following:

  • Talipes equinovarus
  • Tetralogy of Fallot
  • Extrahepatic biliary atresia
  • Renal anomalies (dysplastic kidney, horseshoe kidney)
  • Cleft palate
  • Dysplasia of the earlobes
  • Goldenhar syndrome
  • Meckel diverticulum

Hepatoblastoma is also seen in association with Simpson-Golabi-Behmel syndrome. Routine screening with AFP level monitoring and abdominal ultrasonography is suggested in these patients, who are also at risk for developing Wilms tumor.

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