What is neuroblastoma?

Neuroblastoma is a pediatric tumor that originates from neuroblasts, immature cells of the sympathetic nervous system. This is the part of the autonomic nervous system that controls certain involuntary functions, such as breathing, digestion, and heart activity.

Neuroblasts are cells scattered throughout the body; therefore, neuroblastoma can appear in several areas (adrenal glands, neck, chest, or spine).

 

Who can be affected by neuroblastoma?

Neuroblastoma, a pediatric tumor

Epidemiologically, neuroblastoma is the most frequent tumor in infants and one of the most common tumors in pediatric-age subjects. 90% of all neuroblastomas occur in children under 5 years of age.

Neuroblastoma almost always appears sporadically; it has a genetic component in only 1 to 2% of cases.

Neuroblastoma in adults

Although this tumor can occur at any age, it is almost exclusively a pediatric disease. Only 1.5% of subjects are over 14 years of age at the time of diagnosis.

 

Who has an increased risk of developing neuroblastoma?

In almost all cases, neuroblastoma presents sporadically, meaning it is not inherited from parents. In only 1 to 2% of cases, the disease appears to have the characteristics of a familial tumor, meaning that children inherit from their parents a higher probability of developing the disease. Regarding environmental factors related to lifestyle or exposure to certain toxic substances, there is currently no reliable data on possible cause-and-effect links with the development of neuroblastoma.

 

What are the symptoms of neuroblastoma?

Physical manifestations of neuroblastoma

In two-thirds of cases, neuroblastoma originates from the adrenal medulla or abdominal ganglia (nervous structures belonging to the peripheral nervous system) of the sympathetic nerve, leading to the formation of an abdominal mass and symptoms of compression of surrounding organs.

Sometimes, neuroblastoma originates from ganglia located in the mediastinum, the space located in the middle of the rib cage between the two lungs, and can cause respiratory symptoms.

In a small number of cases, neuroblastoma originates from the lateral cervical ganglia of the neck, with a mass sometimes associated with the symptoms of Bernard-Horner syndrome characterized by drooping of an eyelid (ptosis), retraction of the eye into the orbit (enophthalmos), and narrowing of the pupil (miosis). Sometimes the tumor can also affect the pelvis and cause sphincter problems.

 

Symptoms in the metastatic stage

Metastatic spread, particularly to the bone marrow and skeleton, occurs in 40% of cases already at the time of diagnosis, often associated with pain, weight loss, fever, and periorbital ecchymosis due to extravasation of blood into the subcutaneous tissue around the orbit. Common sites of metastases are lymph nodes, liver, and skin. Lung and central nervous system involvement is rare. 7 to 10% of children present at diagnosis with symptoms of spinal cord compression caused by a mass invading the spinal canal inside the spine. This condition is an oncological emergency requiring prompt intervention to relieve compression on neurological structures.

Very rarely, neuroblastoma manifests with neurological symptoms such as involuntary and uncontrolled eye movements and a lack of coordination of voluntary muscle movements. This is a paraneoplastic syndrome, i.e., an indirect consequence of the tumor, caused by the production of autoantibodies. The autoantibodies are directed against the cerebellum, an organ that controls movement, coordination, and sense of balance.

 

How is a neuroblastoma diagnosis made?

The diagnosis of neuroblastoma is made following a thorough examination and specific tests. Warning signs are often swellings or easily palpable masses. The first tests performed are blood and urine tests to look for substances called catecholamines which, in the presence of neuroblastoma, are released into the blood in sufficient quantity to be detected. Then, diagnostic tests such as X-ray, CT scan, MRI, ultrasound, PET scan and scintigraphy are used to assess the location of the tumor mass. However, certainty of diagnosis is obtained by taking a biopsy of the tumor tissue. The sample is then analyzed genetically to check which mutations generated the tumor. This information is essential for better calibrating treatments.

 

What treatments are available to treat neuroblastoma?

Neuroblastoma treatment protocols adapted to young patients take into account the child's risk of relapse. These therapeutic approaches include well-established treatments in synergy with each other, to which are added, thanks to research results, the genetic information of the tumor and that on new drugs obtained in recent years.

This allows surgeons to:

• Avoid treating children when the tumor has less aggressive genetic characteristics;
• Treat high-risk patients (metastatic disease in children over one year of age) aggressively with high doses of medication, autologous hematopoietic stem cell transplantation, surgery, radiotherapy and differentiation therapy with cis-retinoic acid combined with immunotherapy;

This last phase finally seems to allow a significant reduction in the recurrence of the disease after the end of treatment and increases the chances of long-term survival.

 

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