Neuroblastoma is a type of cancer that occurs most often in young children and affects nerve tissue. Symptoms may include the presence of a mass, abdominal pain, and changes in bowel habits. Treatment depends on the stage of the cancer and includes surgery, chemotherapy, radiation therapy, and stem cell transplantation. The assessment of the Polygenic Risk Score for neuroblastoma is based on the examination of 6 gene polymorphisms.
Genetic testing for neuroblastoma is included along with 15 other diseases in the Genetic Screening for Nervous System Diseases, Polygenic Risk Score, and in the Genetic Screening for Neoplasms and Precancerous Malformations, Polygenic Risk Score, along with 19 other diseases.
Causes and non-genetic risk factors
Neuroblastomas can occur when normal fetal neuroblasts (precursors of the sympathetic nervous system) do not develop into mature cells. Instead, they continue to grow and divide due to alterations in the DNA sequence of specific genes. However, how these changes affect the growth of neuroblastoma cells has not yet been deciphered. However, it has been described that in most cases these changes are randomly acquired (sporadic) although it is also unknown what causes them to appear. Only a low percentage of variants are acquired from the parents. In most cases of neuroblastoma, the cause is never identified.
There are no known environmental factors (such as exposure to chemicals or radiation during the mother's pregnancy or early childhood) that increase the likelihood of neuroblastoma. In addition to the hereditary factor, which is rare in this condition, only the following risk factors have been described:
- Age: It is more frequent in infants and very young children and very rare in those older than 10 years.
- Congenital defects: certain birth defects could imply an increased risk.
Symptoms
The most frequent signs and symptoms of neuroblastoma are due to the pressure of the tumor mass according to its location and, in the most severe cases, to the possible metastasis that may occur. Symptoms may include:
- Lump or mass in the abdomen, neck, chest, or pelvis, depending on where the tumor occurs.
- Loss of appetite, nausea, weight loss, stomach pain, bloating, changes in bowel habits, difficulty urinating.
- Eye changes include black eyes, drooping eyelids, pupils that do not contract, and vision problems.
- Chest pain, shortness of breath, persistent cough.
- Painless bluish lumps under the skin.
- Bone pain, fever, irritability, apathy.
- Back pains.
- Pain or numbness in the lower extremities, inability to stand up, frequent stumbling.
Prevention
There are no known environmental or lifestyle-related causes, and the risks currently identified cannot be modified. Folic acid or vitamin supplementation in pregnant women has been suggested to reduce the risk, but these data have not been contrasted.
In the case of family history, the usefulness of genetic counseling has not been clarified either, given the low frequency of hereditary neuroblastoma.
