Dr. Edward Prochownik is a past St. Baldrick’s Research Grant recipient and is The Paul C. Gaffney Professor of Pediatrics and Professor of Microbiology & Molecular Genetics at Children’s Hospital of Pittsburgh. In this blog post, he answers the question “What Is Hepatoblastoma,” and shares some other information about the cancer, its treatment, prevalence, and why research is so important.
What is Hepatoblastoma?
Hepatoblastoma is the most common liver cancer in children, accounting for about 1% of all childhood cancers. It occurs in approximately 1 in 500,000 to 1,000,000 children but is becoming more common due to higher survival rates in premature and low-birth-weight infants, who are at increased risk. Hepatoblastoma is typically diagnosed in children under the age of three, with most cases occurring before age five.
This rare pediatric liver cancer is believed to originate from fetal liver cells that disappear after birth. In a healthy liver, these cells develop into hepatocytes, which perform essential roles like metabolism, detoxification, and the production of proteins involved in blood clotting.
Hepatoblastoma is further classified into seven subtypes based on microscopic appearance and specific tumor cell markers. This classification helps doctors predict outcomes, as some subtypes are linked to better survival rates.
What Causes Hepatoblastoma?
Hepatoblastoma is primarily caused by genetic mutations. About 80% of cases involve mutations in the beta-catenin gene, which controls liver cell growth and differentiation. In other cases, other genetic abnormalities may disrupt beta-catenin’s function or contribute to the development of the cancer. Additional mutations can occur, but they are less common and highly variable.
Hepatoblastoma cell seen in liver tissue. Photo via National Institutes of Health.
Signs and Symptoms
Hepatoblastoma symptoms can be subtle, making early detection difficult. Many children may look healthy at the time of diagnosis. Watch for these common signs:
- Swollen abdomen: Often noticeable during diaper changes or baths.
- Abdominal mass: Frequently discovered during routine pediatric check-ups.
- Other symptoms: Vomiting, abdominal pain, fever, or loss of appetite, which can resemble other childhood illnesses.
If you notice any of these symptoms, consult a healthcare provider immediately for further evaluation.
Diagnosing Hepatoblastoma
Doctors use a series of steps to diagnose hepatoblastoma:
- Abdominal imaging: An ultrasound is typically the first step to confirm a mass, followed by a CT or MRI scan for detailed images.
- Blood tests: High levels of alpha-fetoprotein (AFP) in the blood often indicate liver cancer.
- Biopsy: A definitive diagnosis comes from examining a small tumor sample under a microscope.
Early diagnosis plays a key role in effective treatment and improved outcomes.
Treating Hepatoblastoma
Treating hepatoblastoma usually starts with surgery to completely remove the tumor. Treatment plans depend on the tumor’s size, stage, and whether it has spread.
- Surgery: For small, localized tumors, surgery alone can cure the disease.
- Chemotherapy: Doctors often use chemotherapy after surgery to destroy any remaining cancer cells. For larger or inoperable tumors, pre-surgery chemotherapy helps shrink the tumor and improves surgical success.
- Drug combinations: Chemotherapy regimens often include drugs that may cause side effects like nausea, vomiting, anemia, or an increased risk of infection. Long-term effects may include hearing loss or damage to the heart and kidneys.
Early and active treatment gives children the best chance for recovery.
How Many Children Are Diagnosed with Hepatoblastoma Each Year?
Each year, doctors diagnose approximately 100-200 children in the United States with hepatoblastoma, a rare type of liver cancer in children.
What Is the Survival Rate for Hepatoblastoma?
The survival rate for hepatoblastoma reaches around 70%, but it heavily depends on the cancer’s stage at diagnosis. Children with small, localized liver tumors have a much better prognosis compared to those with advanced-stage hepatoblastoma and metastases. Detecting the cancer early significantly improves outcomes.
How Is Research Advancing Treatment?
Ongoing research is driving progress in hepatoblastoma treatment. Scientists are constantly testing new drugs and chemotherapy combinations to improve survival rates and reduce side effects. Since childhood cancers are rare, children’s hospitals across the country collaborate on clinical trials to include enough patients and generate meaningful results quickly and accurately.
Advances in genetic research are also reshaping hepatoblastoma treatment. By identifying specific gene mutations and expression patterns in tumors, pathologists can classify cancer more accurately than traditional methods. This allows doctors to predict how well a tumor will respond to treatment and tailor therapies for the best outcomes. For instance, children with a better prognosis can receive less-toxic treatments, minimizing long-term effects.
The Role of St. Baldrick’s Foundation Research
The St. Baldrick’s Foundation has played a crucial role in advancing hepatoblastoma research. Our team has focused on beta-catenin mutations, which drive the growth of hepatoblastoma tumors. Using a model that mimics human tumors, we discovered that different mutations lead to varying tumor growth rates, survival outcomes, and gene expression patterns.
This work highlights the potential to customize chemotherapy plans based on the type of beta-catenin mutation in a patient’s tumor. This approach could improve treatment effectiveness while reducing toxicity for children. Much of this progress has been made possible by funding from the St. Baldrick’s Foundation, which remains committed to supporting groundbreaking research for childhood cancer.
Register. Fundraise. Show up and shave.
Register for an Event
