Hepatoblastoma Blood Test

What is Hepatoblastoma?

Hepatoblastoma is a rare form of liver cancer that primarily affects infants and young children, typically under the age of three. It is caused by abnormal growth of immature liver cells (hepatocytes) and is associated with elevated levels of insulin-like growth factor 2 (IGF-2) and alpha-fetoprotein (AFP). The IGF-2 blood test is the most important test for monitoring tumor biomarkers in hepatoblastoma.

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What causes hepatoblastoma?

Hepatoblastoma is caused by the uncontrolled growth of immature liver cells called hepatoblasts in young children. The exact trigger for this abnormal cell growth is not fully understood, but it involves genetic mutations that disrupt normal liver cell development. Risk factors include premature birth, low birth weight, and certain genetic conditions like Beckwith-Wiedemann syndrome and familial adenomatous polyposis (FAP). The tumor cells often produce excessive amounts of insulin-like growth factor 2 (IGF-2) and alpha-fetoprotein (AFP), which serve as important biomarkers for monitoring the disease.

What is the best test for hepatoblastoma?

The IGF-2 blood test is the most important biomarker test for hepatoblastoma because it detects elevated levels of insulin-like growth factor 2, which promotes tumor cell growth and proliferation in this rare liver cancer. While the definitive diagnosis requires imaging studies (CT or MRI scans) and tissue biopsy, the IGF-2 test provides valuable information about tumor activity and can help healthcare providers monitor disease progression and treatment response. Alpha-fetoprotein (AFP) levels are also typically measured alongside IGF-2, as most children with hepatoblastoma have significantly elevated AFP levels that serve as a tumor marker throughout treatment.

When should I get tested for hepatoblastoma?

You should get tested if your child shows signs such as an abdominal mass or swelling, unexplained weight loss, loss of appetite, abdominal pain, nausea and vomiting, or jaundice (yellowing of the skin and eyes). Testing is especially important for infants and toddlers under three years old who develop these symptoms, as hepatoblastoma primarily affects this age group. Children with genetic conditions like Beckwith-Wiedemann syndrome or FAP, as well as those born prematurely or with very low birth weight, should be monitored more closely as they face higher risk.

What are the symptoms of hepatoblastoma?
Hepatoblastoma symptoms include a noticeable abdominal mass or swelling, often the first sign parents notice when bathing or dressing their child. Other symptoms include unexplained weight loss, decreased appetite, abdominal pain or discomfort, nausea and vomiting, and jaundice (yellowing of the skin and whites of the eyes). Some children may experience precocious puberty due to hormones produced by the tumor. Because these symptoms can develop gradually, parents may not immediately recognize them as signs of a serious condition, which is why any persistent abdominal swelling in young children should be evaluated promptly.
Who is at risk for hepatoblastoma?
Hepatoblastoma primarily affects infants and young children under three years of age, with boys being slightly more susceptible than girls. Children born prematurely or with very low birth weight face increased risk, as do those with certain genetic conditions including Beckwith-Wiedemann syndrome, familial adenomatous polyposis (FAP), and Aicardi syndrome. Children with a family history of liver disease or those exposed to hepatitis B virus may also have elevated risk. While hepatoblastoma is extremely rare, affecting only about one in a million children, early recognition in high-risk groups is crucial for better outcomes.
What happens if hepatoblastoma is left untreated?
If hepatoblastoma is left untreated, the tumor will continue to grow and can spread (metastasize) to other parts of the body, most commonly the lungs. As the tumor enlarges, it can damage healthy liver tissue and impair critical liver functions such as producing proteins, filtering toxins, and regulating blood clotting. Advanced hepatoblastoma can lead to life-threatening complications including liver failure, internal bleeding, severe malnutrition, and respiratory problems if it spreads to the lungs. Early detection and treatment are critical, as hepatoblastoma is highly treatable when caught early, with survival rates exceeding 80% for localized tumors that can be surgically removed.
Can hepatoblastoma be diagnosed with a blood test?
Blood tests alone cannot definitively diagnose hepatoblastoma, but they play an essential supporting role in detection and monitoring. The IGF-2 blood test measures insulin-like growth factor 2 levels, which are often elevated in hepatoblastoma. Most children with hepatoblastoma also have significantly elevated alpha-fetoprotein (AFP) levels, which serve as an important tumor marker. While these blood tests provide valuable clues, definitive diagnosis requires imaging studies such as CT or MRI scans to visualize the tumor, followed by tissue biopsy to confirm the cancer cells. Blood tests remain crucial throughout treatment for monitoring tumor response and detecting potential recurrence.
How is hepatoblastoma treated?
Hepatoblastoma is treated primarily through surgical removal of the tumor whenever possible, often after chemotherapy to shrink it first. Chemotherapy using drugs like cisplatin and doxorubicin is the standard treatment approach, administered before surgery to reduce tumor size and after surgery to eliminate remaining cancer cells. In cases where the tumor is too extensive or the liver is too damaged, liver transplantation may be necessary and can be curative. Treatment plans are individualized based on the tumor stage, location, and how well it responds to chemotherapy. With modern treatment protocols combining surgery and chemotherapy, the overall survival rate for hepatoblastoma has improved dramatically, with many children achieving complete remission.
How can I prevent hepatoblastoma?
There is no proven way to prevent hepatoblastoma because its exact cause is not fully understood and it often occurs without identifiable risk factors. However, ensuring proper prenatal care and avoiding premature birth when possible may reduce risk, as prematurity and low birth weight are associated with higher rates. For children with genetic conditions that increase hepatoblastoma risk, such as Beckwith-Wiedemann syndrome or FAP, regular screening with abdominal ultrasound and AFP blood tests can enable early detection when the cancer is most treatable. Parents should also ensure their children receive hepatitis B vaccination, as chronic hepatitis B infection can increase liver cancer risk later in life.
What can I do at home for a child with hepatoblastoma?
While medical treatment is essential, you can support your child at home by ensuring they receive proper nutrition, as liver cancer and chemotherapy can cause appetite loss and weight loss. Offer small, frequent meals with nutrient-dense foods, and work with a pediatric nutritionist if needed. Keep your child comfortable during treatment by managing side effects like nausea with medications prescribed by their oncologist. Maintain good hygiene and limit exposure to infections, as chemotherapy weakens the immune system. Provide emotional support and maintain as much normalcy as possible with age-appropriate activities. Stay in close communication with your child's medical team and attend all follow-up appointments for monitoring IGF-2 and AFP levels to track treatment response.
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If you have any questions, please text us at 754-799-7833 or email support@privatemdlabs.com and we'll gladly help you.
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