Neuroblastoma

Diagnosis

A neuroblastoma diagnosis usually starts with a physical exam, urine and blood tests, and imaging studies to look for signs of a tumor.

Physical exam

A healthcare professional may examine the child to check for signs of neuroblastoma and ask about symptoms and medical history.

Urine and blood tests

Tests may measure chemicals produced by neuroblastoma cells, such as catecholamines, which can be detected in the urine.

Ultrasound

Ultrasound uses sound waves to create images of the body. It is often the first imaging test used to evaluate symptoms in the abdomen.

CT scan

CT scans use X-rays and computer processing to create cross-sectional images of the body. CT can show the size and location of neuroblastoma in the abdomen or chest and detect spread to lymph nodes, bones, liver, or skin.

MRI

MRI uses magnetic fields and radio waves to produce detailed images of internal structures. MRI is particularly useful for detecting neuroblastoma near the spine and for evaluating spread to other organs.

Biopsy

A tissue sample may be removed using a needle or during surgery. Laboratory tests confirm the presence of neuroblastoma and may evaluate DNA changes to help guide treatment planning.

MIBG scan

Metaiodobenzylguanidine (MIBG) scans use a radioactive tracer to detect neuroblastoma cells throughout the body. This scan can be repeated during and after treatment to assess response.

PET scan

PET scans use radioactive tracers to highlight areas of disease. They are less commonly used for neuroblastoma but may be an option when MIBG scans are not effective.

Bone marrow aspiration and biopsy

Bone marrow samples are collected to check if neuroblastoma has spread. Aspirations remove liquid marrow, while biopsies collect a solid sample, usually from the hip bone.

Treatment

Treatment for neuroblastoma depends on the child’s age, cancer stage, and risk group, and may include surgery, chemotherapy, radiation therapy, immunotherapy, and other specialized treatments.

Surgery

Surgery removes neuroblastoma cells using precise techniques. For low-risk neuroblastoma, surgery may be the only treatment needed. Higher-risk cases often require chemotherapy first to shrink the tumor before surgery.

Chemotherapy

Chemotherapy uses strong medicines to kill cancer cells. It may be given before surgery to shrink tumors, after surgery to kill remaining cancer cells, or before a bone marrow transplant. Medicines are typically given intravenously, but some may be oral.

Bone marrow transplant

A transplant replaces damaged bone marrow with healthy stem cells. For high-risk neuroblastoma, autologous stem cells from the child are collected, stored, and reinfused after high-dose chemotherapy to restore healthy blood cells.

Radiation therapy

Radiation therapy uses powerful energy beams to destroy cancer cells. It may follow chemotherapy and surgery for high-risk neuroblastoma. Proton therapy, a targeted form of radiation, may reduce damage to surrounding healthy tissue.

Immunotherapy

Immunotherapy helps the immune system detect and attack cancer cells. Anti-GD2 medicines are commonly used for high-risk neuroblastoma and are often combined with chemotherapy and isotretinoin.

Treatment to prevent relapse

Some children with high-risk neuroblastoma may receive medications like eflornithine (DFMO) for up to two years to reduce the risk of recurrence.

Treatment for recurrence or refractory cancer
If neuroblastoma returns or does not respond to standard treatment, options may include:
• Radiopharmaceutical therapy, such as I-131 MIBG
• Targeted therapy, which blocks specific chemicals in cancer cells
• CAR-T cell therapy, which modifies the child’s own immune cells to fight cancer

Treatment plans are individualized, and ongoing monitoring helps guide adjustments to achieve the best outcomes.