A hepatoblastoma is a rare malignant embryonic tumor of the liver that mainly affects infants and young children. If the tumor is diagnosed early enough before it metastasizes, surgical removal of the tumor offers a good chance of survival.
What is a hepatoblastoma?
The hepatoblastoma is an embryonic tumor of the liver, i.e. it develops on liver cells that have not yet fully differentiated. It mostly affects infants and young children, with a peak incidence between the ages of 6 months and 3 years.
Only in exceptional cases do children over the age of 15 develop a hepatoblastoma. Initially, there is hardly any pain, so that the tumor – especially since it occurs rarely – is usually only noticed during routine examinations. The hepatoblastoma is usually palpable and in some cases there can be visible liver dysfunction due to yellowing of the skin.
The embryonic tumor is subject to different physiological conditions and requires different therapies than a liver tumor on fully differentiated liver cells (hepatocellular carcinoma) and must therefore be distinguished from this.
The hepatoblastoma is causally associated with various genetic defects, which also affect the rare Beckwith-Wiedemann syndrome (hemilateral, asymmetric gigantism ) or other hemiplegic growth problems.
Likewise, hepatoblastomas are associated with familial, autosomal dominant inheritance, adenomatous polyposis (development of a large number of polyps in the large intestine ) and with extreme premature births. Japanese studies have shown a significant statistical correlation between the occurrence of hepatoblastoma and birth weights of less than 1,000 g in preterm infants.
The extent to which this is a coincidental or causal connection has not yet been finally clarified. A connection that has also not (yet) been confirmed exists with the Li-Fraumeni syndrome, which is caused by a mutation in a tumor suppressor gene in the germ line and can lead to multiple tumors at an early age.
Symptoms, Ailments & Signs
Initially, a hepatoblastoma is often not noticed symptomatically. Only a painless swelling of the abdomen in the child is observed occasionally. The disease usually begins before the end of the second year of life. In rare cases, a later or earlier onset of the disease is possible.
Boys are affected more often than girls. After a long symptom-free period, the affected children suffer from nausea, vomiting and weight loss. In rare cases, abdominal pain and jaundice can occur beforehand if the tumor blocks the bile ducts at an early stage.
Overall, the disease is characterized by increasing general weakness. Developmental delays occur, but these only become noticeable after a longer period of illness. Boys may experience early puberty ( Pubertas praecox ). Other symptoms only appear when metastases form . These depend on which organs are affected by the metastases.
The lungs are most commonly affected. This often leads to breathing difficulties, coughing fits and sometimes blood spitting. In rare cases, metastases occur in the bone, bone marrow and brain. This leads to bone pain, frequent fractures, severe limitations in movement, seizures, a tendency to bleed, anemia and general fatigue. With timely treatment and complete removal of the tumor, there are good prospects for a complete cure.
Diagnosis & History
When a hepatoblastoma is first suspected, there are several diagnostic methods available that can complement each other. First of all, an unspecific laboratory test is recommended, in which the LDH concentration (lactate dehydrogenase) and the liver enzyme values are determined in addition to platelets and ferritin.
An increased LDH concentration provides an indication of cell or organ damage in the body. A specific laboratory test should provide information as to whether the tumor marker alpha-fetoprotein (AFP) is significantly increased, because this value is increased in 80% – 90% of cases of the disease and, conversely, a hepatoblastoma is definitely present with corresponding AFP values.
Imaging diagnostic methods such as abdominal ultrasound, chest X-ray, chest CT or upper abdominal CT, each with contrast media, are available for further clarification. Histopathological examinations should also be carried out to confirm a positive diagnosis. The course of the disease, if left untreated, leads to liver failure and the formation of metastases, predominantly in the lungs, so that a fatal course is prognosticated.
Because hepatoblastoma is a tumor, it has the usual symptoms and complications of cancer. In the worst case, this can lead to the death of the patient if the tumor spreads to other regions of the body and causes damage there. If the hepatoblastoma is diagnosed and removed early, life expectancy is usually not reduced.
Hepatoblastoma primarily causes severe abdominal pain and jaundice. The abdomen swells and appears bloated. Those affected also suffer from vomiting and nausea. It is not uncommon for the symptoms to lead to weight loss and deficiency symptoms. The complaints often lead to psychological upsets and irritability in the patient.
If the hepatoblastoma is not treated, metastases usually form in the lungs and liver, causing both organs to fail. This leads to the death of the patient. If diagnosed early, the tumor can be removed. However, the further course of the disease depends on the region and the severity of the tumor. In some cases, a transplant is necessary if the internal organs have been damaged.
When should you go to the doctor?
Parents who notice signs of jaundice in their child should contact the pediatrician. If the symptoms persist for more than two to three days, the suspicion of a serious illness is obvious. A specialist doctor must clarify the symptoms and, if necessary, initiate treatment.
A diagnosed hepatoblastoma is a serious condition. Parents should consult their health care professional regularly and inform the doctor of any unusual symptoms. If metastasis is suspected, the doctor will perform a comprehensive ultrasound examination and refer the parents to a specialist for further treatment.
The spread of the tumor can initially be inconspicuous, but sometimes causes symptoms. If, for example, the child feels severe pain, is particularly irritable or has difficulty breathing, an immediate visit to the doctor is indicated.
Nausea, vomiting or spitting up blood also need to be checked, as these symptoms indicate metastasis of the tumor to the lungs. A hepatoblastoma usually has to be removed surgically or with chemotherapy or radiation therapy. After the treatment has been completed, the parents must continue to watch out for any abnormalities and have the child undergo regular medical examinations.
Treatment & Therapy
The goal of any therapy is to completely remove the tumor and to observe the further postoperative course of the disease in initially narrow time intervals of 6 weeks. If the hepatoblastoma is classified as inoperable, previous cisplatin-based chemotherapy may be necessary.
Radiation therapy has little effect on this disease and is therefore out of the question. After the chemotherapy is complete, the tumor is surgically removed, which is only possible if it is confined to certain areas of the liver. If the hepatoblastoma is not (yet) operable after the first chemotherapy, further chemotherapy can definitely be worthwhile in order to take advantage of the opportunity to have the tumor regress to an operable state.
During the total resection of the tumor, care is taken not to leave any residual tissue that can quickly develop into a recurrence. Chemotherapy follows postoperatively, which should contain a combination of cytostatics if possible, since hepatoblastomas can develop resistance to cisplatin as the sole active ingredient.
In children with inoperable tumors who also do not respond to preoperative chemotherapy, the alternative option is to occlude the afferent and efferent vessels that supply the tumor in order to interrupt the supply of the tumor as much as possible.
Otherwise, the last treatment option is a liver transplant. In the follow-up after a total resection of the tumor, the development of the AFP tumor marker is crucial. A renewed increase indicates the development of a new tumor as early as one to two months before a recurrence that can be diagnosed with imaging methods.
Outlook & Forecast
The prognosis of hepatoblastoma depends on the treatment. She’s fine with therapy. Without treatment, the disease always leads to death. It is a cancer of the liver that is characterized by four stages. In the course of the disease, metastases often occur in the lungs. Less commonly, the brain, bones, and bone marrow are affected.
If the therapy only begins after the first metastases have appeared, the only option left is to try to increase the life expectancy of the children and to maintain or restore the quality of life. However, whether complete or at least long-term healing can be achieved under these circumstances depends on the individual case. As a rule, however, complete healing is no longer possible when metastases occur.
Nevertheless, the chances of recovery from a hepatoblastoma are very good if the tumor is completely removed before metastases develop. No residues should remain in the body. However, this can be done very well if cytostatic therapy is carried out before the operation.
With this therapy, in which certain cytostatics are applied to the hepatic artery, there is greater certainty that the primary tumor can be localized and resected without residue. This increases the five-year chance of survival in the case of a hepatoblastoma to around 80 percent. Eight out of ten children can therefore be completely cured with a complete resection of the tumor.
A sensible prophylaxis to avoid a hepatoblastoma is not possible, since the development of the disease is very likely based on inherited genetic defects or gene anomalies. Therefore, a family history is important. If specific cases of illness are known in the family, close observation of the child and possibly regular prophylactic monitoring of the AFP tumor marker is recommended.
In most cases, those affected with a hepatoblastoma have very few options for aftercare. In the worst case, the disease can lead to the death of the person affected if it is not recognized until late. Therefore, early detection and subsequent treatment are key in this disease. A doctor should be consulted as soon as the first signs and symptoms appear, so that no further complications arise.
The tumor is usually removed by surgery. After such a procedure, the affected person must definitely rest and take care of his body. Here, exertion or other stressful or physical activities should be avoided in order not to unnecessarily burden the body.
Patients are often also dependent on the support and help of their own family, which can alleviate psychological upsets or depression. Even after the removal of the hepatoblastoma, regular examinations of the internal organs by a doctor are often necessary. It is also often useful to take medication, whereby care must be taken to ensure the correct dosage with regular use.
You can do that yourself
A heptoblastoma is usually treated with chemotherapy or radiation therapy. Those affected can support the treatment with various measures.
Before the start of therapy, there is time for those affected to collect information and find a way to deal with the disease. Basically, body and psyche must be prepared for the treatment. Heptoblastoma patients should get enough exercise, get enough nutrients, and drink plenty of fluids just prior to chemotherapy.
Many side effects can be alleviated by means of complementary medicine, such as bitter substances against loss of appetite and the homeopathic preparation Nux vomica against nausea and vomiting.
There are also many ways to support recovery during therapy. For example, moderate endurance sports are recommended – ideally regularly and outdoors – because exercise promotes oxygen supply and improves the cell environment. A healthy and balanced diet can also reduce the weakening effects of chemotherapy and help the body fight heptoblastoma.
The menu should primarily contain foods that are rich in trace elements and vitamins. In consultation with the doctor, targeted detoxification can also be carried out to deacidify the body and remove the breeding ground for cancer cells.