Neuroblastoma is the most common solid tumor in infants and young children. It accounts for between 7% and 10% of all pediatric cancer cases. In the United States, about 800 new cases are diagnosed each year. This childhood cancer mainly affects children younger than 5 years old. It originates in the sympathetic nervous system, affecting areas such as the adrenal medulla. It can also affect regions near the spine. Diagnosis usually occurs between the first month of life and 5 years. It is sometimes detected before birth by prenatal ultrasounds. Advances in treatment have improved survival rates. For low-risk patients, five-year survival is as high as 95%. In high-risk cases, it is around 50%. These data highlight the importance of early diagnosis. Proper treatment is crucial in the fight against this childhood cancer.
What is Neuroblastoma and its main characteristics?
Neuroblastoma is a cancer that affects young children. It develops from fetal nerve cells called neuroblasts. Most cases occur in early childhood.
Definition and origin of the tumor
Neuroblastic tumors arise in the sympathetic nervous system. Neuroblastoma usually starts in the adrenal glands, which produce essential hormones. It can grow slowly or quickly and spread to other parts of the body.
Affected areas of the body
Although the adrenal glands are the most common source, neuroblastoma can appear in other areas. These include the neck, chest, spinal cord, and abdomen. Symptoms vary depending on the location of the tumor. They can manifest as a visible lump or cause pain in different parts of the body.
Incidence and most affected age groups
Neuroblastoma is most common in infants and young children. Most cases are diagnosed before the age of 5. The incidence varies between ethnic groups. Early diagnosis is crucial for effective treatment. It is rare in children older than 10 years.
Risk factors and genetic predisposition
The genetics of neuroblastoma are key in the development of this disease. Most cases are sporadic. However, between 1% and 2% of patients have a family history.
Inherited genetic mutations
The main genetic variants of neuroblastoma include mutations in the ALK and PHOX2B genes. These alterations can increase the risk of developing the disease. Recent studies have identified other pathogenic variants in genes such as SMARCA4, BARD1 and ERCC2. Alterations in the CHEK2 and MSH3 genes have also been found.
Neuroblastoma-Associated Syndromes
There are cancer predisposition syndromes that increase the risk of neuroblastoma. These include:
- Costello syndrome
- Noonan syndrome
- Neurofibromatosis type 1
Family history and hereditary risk
A family history of neuroblastoma increases the risk of developing the disease. Approximately 75% of familial cases are due to abnormal ALK activation. For people with genetic risk variants, special surveillance is recommended. This includes abdominal ultrasounds, evaluation of urinary catecholamines, and chest x-rays.
Main signs and symptoms of neuroblastoma
Neuroblastoma shows different symptoms depending on where the tumor is located. Detecting these signs is vital for an early diagnosis. Prompt treatment can improve the chances of recovery. In the abdomen, neuroblastoma can cause:
- Non-tender abdominal mass
- Abdominal pain
- Changes in bowel habits
- Abdominal swelling
If the tumor grows in the chest, symptoms may include:
- Wheezing when breathing
- Chest pain
- Shortness of breath
Other general signs of neuroblastoma include:
- Lumps of tissue under the skin
- Googly eyes (proptosis)
- Dark circles around the eyes
- Back and bone pain
- Fever
- Unexplained weight loss
These symptoms in children under 5 years of age should draw attention. It is important to see a doctor immediately. Early diagnosis can expand the treatment options available.
Updated Treatment Options
Treatment for neuroblastoma depends on the age and stage of the disease. Surgery is the main option for localized tumors. In complex cases, it is combined with chemotherapy to shrink the tumor. Chemotherapy is essential in the treatment of neuroblastoma. It is used before surgery in cases of intermediate risk. In high-risk patients, high doses are given to shrink the tumor. Radiation therapy is used in advanced stages to relieve pain. It also helps prevent tumor recurrences. Stem cell transplantation is a valuable option in high-risk cases. Radioactive MIBG therapy is effective in controlling advanced neuroblastoma. It is combined with chemotherapy or transplant. These treatments have significantly improved survival in low-risk cases. Research continues to advance in the treatment of neuroblastoma. Clinical trials are exploring new therapies and screening methods. The protocol for high-risk cases lasts about a year.
