Imagine being so young you can’t understand what your doctor is telling you. So young that you’re barely old enough to go outside and play with your friends. So young, you’re still deciphering the world around you as you look fascinated and wide-eyed at every occurrence.
Imagine being so young that when the doctor tries to explain anything to you, you relieve yourself on his desk. But it’s okay, no biggie. Your parents have invested in expensive diapers. None of that peepee is going to soil anything anytime soon.
Imagine being that young when the doctor tells your parents that you’ve got hepatoblastoma. It's nothing major, just cancer of the liver.
Now, this cancer is rare. It isn’t your cervical cancer or lymphoma, so much so that there’s no comprehensive data available regarding incidence or how many children get cured.
But there is some data, and it isn’t pretty. The exact number of children afflicted with hepatoblastoma in India is not readily available. Still, because it is so rare, the incidence is estimated to be around 1.5 cases per million children, meaning it is a very small number compared to the overall child population in India; this is considered a rare cancer, with only about 1% of all pediatric cancers being hepatoblastoma.
Due to a lack of comprehensive national data, the exact number of children dying from hepatoblastoma in India is not readily available. Still, it is considered a rare cancer with variable survival rates depending on the stage of diagnosis, with studies indicating that survival rates for children with hepatoblastoma in India can range from 33% to 100%, with toxicity-related deaths and progression of disease being the leading causes of treatment failure.
A complex term that could wreak havoc in a child’s life, hepatoblastoma refers to a cancer that crops up in the tissues of the liver. The most common type of childhood liver cancer, it usually impacts little children younger than three years of age. But why the liver?
The liver happens to be one of the largest organs in our body. Found usually on the upper right side of the abdomen inside the rib cage, a liver has two lobes. The liver is vital for several reasons, including its range of functions.
It makes bile to help digest fats from food
It stores glycogen, which the body later uses for energy.
It filters harmful substances from the body to be excreted via stools and urine.
It is pretty common for children to contract liver diseases like infections, metabolic disorders and genetic disorders. Common symptoms include liver enlargement, jaundice and abdominal pain.
But cancer - that just takes things to a whole different level. Hepatoblastoma is both rare and malignant. The majority of hepatoblastoma cases are found before the child turns three.
Why does this cancer happen? Doctors aren’t really sure. Certain genetic disorders predispose a child to greater risk, like Beckwith-Weidemann syndrome, familial adenomatous polyposis and trisomy 18. Premature children are also at risk of contracting hepatoblastoma.
Because hepatoblastoma is so rare, it has not been studied or examined holistically. It is sporadic mainly, found in children younger than five years of age, primarily boys. Globally, its incidence is lower than other solid tumours in children, like neuroblastoma and Wilm’s tumour.
This rare sort of liver cancer is attributed to particular changes in the ways of functioning of the liver cells and, more significantly, how they grow and divide into new cells. Mostly, the exact cause of the cell changes remains unknown. The causes of hepatoblastoma are several. So are the risk factors.
A risk factor is anything that amplifies the chance of contracting this disease. Every single child that has a risk factor won’t develop hepatoblastoma. It might crop up in children whose risk factor is absent. The below syndromes or conditions are considered risk factors for developing hepatoblastoma.
Aicardi syndrome
This syndrome is a rare genetic disorder that targets females and is linked to brain anomalies as well as other developmental issues. Children who are suffering from Aicardi syndrome are at risk for developing different types of cancer, including hepatoblastoma. This is a neurodevelopmental disorder.
Earlier, it was identified as a typical triad of agenesis of the corpus callosum, central chorioretinal lacunae, and infantile spasms. Not all affected girls have all three features of the classic triad, with other defects quite common.
Beckwith-Wiedemann Syndrome
This is an overgrowth disorder because of abnormal regulation of growth genes on chromosome 11. Children who are born with Beckwith-Wiedemann Syndrome are at a greater risk of developing hepatoblastoma, especially during the first few years of their life.
Characteristics of this syndrome include a large body size, an enlarged tongue, and abdominal wall defects. Constant monitoring is required to detect liver tumours early.
Hemihyperplasia
Commonly known as hemihypertrophy, this is a condition in which the body grows disproportionately, i.e. one side grows a little more than the other. This occurs typically in children suffering from Beckwith-Wiedemann syndrome.
The risk of developing hepatoblastoma goes up with children suffering from hemihyperplasia, especially in case of a family tendency towards overgrowth disorders.
Familial Adenomatous Polyposis (FAB)
Familial Adenomatous Polyposis refers to an inherited condition that enhances the risk of developing several polyps in the colon, which might go on to become colon cancer. Children that have FAP are in danger of developing several cancers, hepatoblastoma being one of them.
Mutations in the APC gene contribute to the development of FAP, while regular screening for other cancers, such as ovarian cancer, is extremely important.
Glycogen Storage Disease
Glycogen Storage Diseases (GSD) refers to inherited disorders that impact how the body stores or uses glycogen. Children that have particular types of GSD, most notably GSD Type 1 and GSD Type 3, are at risk of developing liver tumours, including hepatoblastoma.
Such conditions result in liver enlargement and dysfunction, which can lead to the development of tumours over time.
Premature Birth with a Very Low Weight at Birth
Premature birth exponentially increases the risk of developing several health problems, liver abnormalities included. A low weight at birth is linked to an increased incidence of hepatoblastoma in early childhood because the liver is underdeveloped, raising the possibility of tumour formation.
Simpson-Golabi-Behmel Syndrome
Simpson-Golabi-Behmel-Syndrome (SGBS) is a rare genetic condition distinguished by overgrowth and developmental delays. It is also linked to an increased threat of hepatoblastoma, especially in infants.
Mutations in the GPC3 gene, a Glypican gene, cause SGBS, with children requiring careful watching for potentially developing liver tumours.
Genetic Changes like Trisomy 18
Also known as Edwards syndrome, Trisomy 18 is a chromosomal disorder in which individuals have an exact copy of chromosome 18. This genetic abnormality is linked with acute developmental delays and organ abnormalities.
Children who have Trisomy 18 are at greater risk for developing several cancers, hepatoblastoma included, thanks to the chromosomal imbalance impacting regular cell growth and function.
The symptoms of hepatoblastoma vary from one child to the other. They depend on the tumour size. Children might not exhibit symptoms of hepatoblastoma until the tumour has grown larger. In any case, the symptoms are as follows -
Lump or mass in the belly (abdomen)
A noticeable lump or mass in the abdomen is one of the most common signs of hepatoblastoma. This mass might be tangible by touch, more so in the upper right side of the abdomen in the location of the liver. This becomes worse as the tumour grows in size.
A Swollen Abdomen
This is another well-known symptom of hepatoblastoma. This happens because the tumour grows, resulting in fluid buildup (ascites) or liver enlargement. Swelling can result in lots of discomfort and a distended belly.
Swelling is often the indicator of something majorly wrong in the body.
Pain in the Abdomen
Because this tumour grows, it pressures surrounding organs and tissues, resulting in abdominal pain. Such pain might be constant or intermittent and could worsen with movement or touching the abdomen. This symptom mainly results in discomfort - and might be more apparent after you feed your child.
Loss of Appetite
While judging a child’s appetite might be challenging, children with hepatoblastoma might experience a significant loss in appetite. This might happen because of the physical discomfort caused by the tumour or changes in the body’s metabolism caused by liver dysfunction. Children might exhibit a lack of interest in food, together with weight loss and nausea.
Weight Loss
Inexplicable weight loss is a common symptom of hepatoblastoma, and this happens because of a combination of loss of appetite, nausea, and the increased energy demands of the body because of cancer. This can be quite alarming in small children because it impacts their overall growth and development.
Feeling Tired
Children suffering from hepatoblastoma might feel fatigued because the body is constantly fighting the ailment. Children might feel unusually weak or tired, even if they have rested adequately. This happens because the body’s energy is being redirected towards dealing with the tumour or because of anaemia caused by liver dysfunction.
Nausea and vomiting
Small children often throw up or vomit, so that shouldn’t be cause for concern. However, this could also be a sign of cancer because the tumour presses on the stomach or intestines, throwing a spanner in the works of digestion.
This can also happen due to changes in liver function or side effects from treatments. Such symptoms might occur more after meals or in the morning.
Yellow Colour of the Skin or White of the Eyes (Jaundice)
Jaundice, which results in yellowing of the skin or whites of the eyes, happens because the liver can’t process bilirubin properly. This is quite common in hepatoblastoma because the tumour impairs normal liver function. Jaundice might result in dark urine and light-coloured stools.
Fever
Fever is quite common in small children, and their temperature goes up at the drop of a hat. This could be a sign of infection, inflammation or the attempt made by the body to combat cancer. Sometimes, fever might also mean the cancer has spread to other body parts.
Itchy Skin
Also known as pruritus, this happens in children suffering from hepatoblastoma, primarily because of dysfunction of the liver. When the liver is unable to properly process bilirubin, it can accumulate in the skin, resulting in itching. This symptom can go from mild to severe at the drop of a hat, impacting a child’s comfort level.
Suppose you find that your child has symptoms that are characteristic of hepatoblastoma. In that case, the doctor might need to ascertain whether these signs are because of cancer or because of something else entirely. The doctor might ask when they began or how long your child has been having them.
They might enquire about your child’s personal and family medical history besides doing a physical exam. Depending on these results, the doctor might suggest diagnostic tests to determine whether your child has hepatoblastoma.
The results will help you and your little one’s doctor plan treatment. The below tests might be used for diagnosing hepatoblastoma -
Serum tumour marker tests
This test finds out the amount of certain substances that are released into the blood by organs, tumour cells or tissues in the body. When found in increased quantities in the blood, particular substances are linked to particular types of cancer. They’re called tumour markers.
Children with hepatoblastoma might have increased amounts of a hormone known as beta-human chorionic gonadotropin (beta-hCG) or a protein called Alpha-Fetoprotein (AFP). Other cancers, benign liver tumours and certain noncancerous conditions like hepatitis and cirrhosis can raise AFP levels.
SMARCB1 gene testing
This is a laboratory test during which a blood or tissue sample gets tested for specific changes in the SMARCB1 gene.
Complete Blood Count (CBC)
A little blood is drawn and checked for the following :
The amount of red blood cells, white blood cells and platelets.
The amount of haemoglobin (the protein ferrying oxygen) in the red blood cells.
The part of the blood sample is made up of red blood cells.
Liver Function Tests
An LFT is carried out to measure the quantities of certain substances that are released into the blood by the liver. An increased amount of any substance can point towards liver damage or cancer.
Blood Chemistry Studies
Blood chemistry studies ascertain the amounts of particular substances, like bilirubin or lactate dehydrogenase (LDH), released into the blood by organs or tissues in the body. Any anomaly could point towards liver disease.
Magnetic Resonance Imaging (MRI) with gadolinium
MRI uses a magnet, radio waves, and a computer to create detailed images of areas inside the liver. An injection of gadolinium is given. This collects around the cancer cells, making them brighter in the picture. Such a procedure is also known as nuclear MRI.
CT Scan (CAT Scan)
A CAT scan implements a computer hooked up to an X-ray machine to take a number of photographs inside the body from multiple angles. A dye might be injected into the vein or swallowed so organs and tissues can show up more clearly.
Such a procedure is known as computed tomography, computerised tomography or computerised axial tomography. A CT scan of the chest and abdomen is mostly done for children.
Ultrasound
In this procedure, high-energy sound waves are bounced off internal tissues or organs in the body, and they make echoes. Such echoes form a picture of body tissues, also known as a sonogram. In childhood liver cancer, an ultrasound exam of the abdomen might be done to check the large blood vessels.
Chest X-Ray
In this X-ray of the lungs, a type of high-energy radiation can go through the body onto film is done, taking a photo of areas inside the body.
Biopsy
This procedure involves removing a sample of tissue from the tumour so a pathologist can see it under a microscope to check for cancer signs. The doctor might remove as much of the tumour as safely possible during the same biopsy procedure.
Immunohistochemistry
Under this procedure, antibodies are used to check for particular antigens (markers) in patient tissue samples. The antibodies in question are mostly linked to an enzyme or fluorescent dye. Once the antibodies bind to a particular antigen in the tissue sample, the enzyme or dye is activated so that the antigen might be seen under a microscope.
Such a test is used to check for gene mutations and diagnose cancer to distinguish one type from another. Such a test might be used to find changes in the INI1 gene.
When doctors want to describe how much the cancer has spread in the body, they denote it by a stage. In hepatoblastoma, the PRETEXT and POSTTEXT groups are used instead of the stage to determine treatment.
Tests and procedures are conducted to detect, diagnose, and determine whether the cancer has spread. They are also used to establish the PRETEXT and POSTTEXT groups.
Two grouping systems are implemented for hepatoblastoma to confirm whether the tumour may be removed using surgical methods.
The PRETEXT group describes the tumour before treatment. The POSTTEXT group illustrates the tumour once the patient has undergone treatment like neoadjuvant chemotherapy.
We can divide the liver into four sections for the two grouping systems. The PRETEXT and POSTTEXT groups depend on which parts of the liver have cancer. There are four PRETEXT and POSTTEXT groups.
PRETEXT and POSTTEXT Group One
In group one, the cancer may be found in one section of the liver. Three sections of the liver that are in close proximity to each other don’t have cancer in them.
PRETEXT and POSTTEXT Group Two
In group two, cancer might be found in one or two sections of the liver. Two sections of the liver that are close to each other don’t have cancer in them.
PRETEXT and POSTTEXT Group Three
When it comes to group three, one of the below might be true.
Cancer is found in three sections of the liver, with one section bereft of cancer. Cancer is found in two sections of the liver, and two sections that aren’t next to each other are free of cancer.
PRETEXT and POSTTEXT Group Four
In group four, the cancer may be found in all four sections of the liver.
If your child has been diagnosed with hepatoblastoma, treatment may be carried out with any of the below.
Surgery
This might be done to obtain a tumour sample for diagnosis. It is also carried out to remove as much of the tumour as possible (resection). This might be a partial hepatectomy (part of the liver is removed) or a total hepatectomy (all of the liver is removed).
Chemotherapy
Strong medicines that kill cancer cells are administered before or after surgery. They are given right into the blood through a vein (IV), as an injection or orally. These medicines may be put right into the liver through a tube (catheter), which goes into the liver's main artery.
This is known as the chemoembolisation of the hepatic artery. Chemotherapy is mixed with a substance that blocks blood flow to the tumour to prevent it from growing and spreading.
Liver Transplant
If the tumour can’t be removed, the whole liver might be removed and replaced with a healthy liver from a donor.
Radiation therapy
In this treatment method, high-energy X-rays or other types of radiation are used to kill cancer cells and prevent them from growing. This might not always be used. Radioembolisation is an internal radiation therapy and could be an option in some instances.
To carry this out, tiny radioactive beads are placed in the main artery in the liver, which goes to the tumour. The beads collect there, and the radiation kills cancer cells in proximity.
Before treatment, speak to your doctor about new treatments that might work well for your child. Treatment can sometimes cause nasty side effects. Medicines and other treatments might be given for pain, infection, fever, nausea and vomiting.
Hepatoblastoma - might be progressive or refractory. Progressive hepatoblastoma is when the cancer grows, spreads, or worsens. Refractory hepatoblastoma is a cancer that stays indifferent to treatment.
Recurrent hepatoblastoma refers to cancer that has returned post-treatment. The tumour might return to the liver or as metastatic tumours in other body parts. Tests might be done to find where the cancer has returned to the body, its spread and how far it has gone. The kind of treatment for recurrent hepatoblastoma will be subject to how far the cancer has spread.
Hepatoblastoma, being a rare and complex form of liver cancer, throws up significant challenges for small children and their families. It has subtle symptoms and can easily be mistaken for other conditions, so early detection is vital.
While it is difficult to pinpoint the exact cause, certain genetic conditions and risk factors have been associated with its development. Having said that, the correct treatment approach, ranging from surgery to chemotherapy and liver transplants, might help children overcome this disease.
Continued research and improved diagnostic methods are important to understand this rare cancer better and give hope to those afflicted. Through early intervention, constant monitoring and personalised care, hepatoblastoma can be fought, leading to superior outcomes and a bright future for young patients.
My child cannot stop crying - could he/she be unwell, and could it be a sign of cancer?
Children cry when they want something or have been hurt. If you can’t figure out why your infant is crying, visit a doctor to know better.
What is hepatoblastoma?
Hepatoblastoma refers to a rare type of liver cancer that mostly affects young children, especially if they’re under three years of age. Starting in the liver cells, it can grow fast.
What are some symptoms of hepatoblastoma in children?
Some symptoms include a lump in the abdomen, swelling, pain, loss of appetite, weight loss, jaundice and fever.
What is the cause of hepatoblastoma?
While scientists aren’t sure about the exact cause, certain genetic disorders and conditions like Beckwith-Wiedemann syndrome, hemihyperplasia, and more can cause it.
How is hepatoblastoma diagnosed?
Diagnosis usually involves a combination of physical examinations, blood tests, imaging tests and maybe a biopsy.
