Rhabdoid tumours are among the most challenging childhood cancers, requiring swift action and intensive treatment approaches. Understanding how doctors approach treatment—from established therapies to experimental options being tested in clinical trials—can help families navigate this difficult journey.

How Doctors Work to Control Rhabdoid Tumours

When a child is diagnosed with a rhabdoid tumour, the primary goal of treatment is to stop the cancer from spreading and to remove as much of the tumour as possible. These tumours grow and spread very quickly, which means treatment must begin immediately after diagnosis. The approach doctors take depends on several factors, including where the tumour is located in the body, how large it has grown, whether it has spread to other parts of the body, and the child’s age and overall health.^[1]

Because rhabdoid tumours are so rare—affecting fewer than 1 in 1 million people—there is no single standard treatment that works for everyone. Instead, medical teams create individualised treatment plans based on the specific circumstances of each child. The rarity of these tumours also means that many children are treated at specialised cancer centres that have experience managing these aggressive cancers.^[2]

Treatment aims to achieve several outcomes: reducing the size of the tumour, preventing it from spreading further, managing symptoms such as pain or breathing difficulties, and improving the child’s quality of life during and after treatment. Doctors also work to minimise the long-term effects of treatment, which can be significant given the intensive therapies required. The care team typically includes oncologists (cancer specialists), surgeons, radiation specialists, nurses, and other healthcare professionals who work together to provide comprehensive care.^[3]

Standard Treatment Approaches

The standard treatment for rhabdoid tumours involves a combination of three main approaches: surgery, chemotherapy (drugs that kill cancer cells), and radiation therapy (high-energy rays that destroy cancer cells). Because these tumours are so aggressive, doctors typically use all three methods together rather than relying on just one.^[2]

Surgery is usually the first step in treatment. Surgeons attempt to remove as much of the tumour as possible during an operation. In some cases, the entire tumour can be removed in one piece. However, rhabdoid tumours can grow very large, making complete removal difficult or impossible during the initial surgery. When this happens, doctors may plan additional surgeries after chemotherapy has shrunk the tumour. The goal is always to remove as much cancerous tissue as safely possible without damaging surrounding healthy organs or tissues.^[9]

Even when surgeons successfully remove all visible tumour tissue, cancer cells may remain in the body. This is why chemotherapy is given after surgery to almost all children with rhabdoid tumours. Chemotherapy uses powerful drugs to kill any remaining cancer cells and reduce the risk of the cancer coming back. The specific drugs used can vary, but common chemotherapy medicines for rhabdoid tumours include cyclophosphamide, cisplatin, etoposide, vincristine, carboplatin, ifosfamide, doxorubicin, methotrexate, thiotepa, and cytarabine. These drugs are often given in various combinations to increase their effectiveness.^[17]

Radiation therapy is another key component of standard treatment, particularly for children older than 3 years. This treatment uses high-energy beams to kill cancer cells or stop them from growing. Two types of radiation may be used: focal radiation, which is directed precisely at the tumour site, and craniospinal radiation, which treats the entire skull and spine. The type chosen depends on whether the cancer has spread and where it is located. Radiation is generally not used in children younger than 3 years because it can damage developing brain cells and cause serious long-term problems with growth and development.^[17]

The duration of chemotherapy treatment can extend over many months and often requires hospitalisation. Children typically receive multiple cycles of chemotherapy, with each cycle lasting several days or weeks, followed by a rest period to allow the body to recover. The intensive nature of treatment means that children spend considerable time in hospital and require close monitoring for side effects.^[12]

Side effects from these treatments can be significant. Chemotherapy commonly causes nausea, vomiting, hair loss, increased risk of infections, fatigue, and changes in appetite. Radiation therapy can cause skin irritation at the treatment site, fatigue, and when directed at the brain, may affect thinking and learning abilities. Surgery carries risks such as bleeding, infection, and complications related to anaesthesia. The care team works closely with families to manage these side effects and provide supportive care throughout treatment.^[9]

Advanced Treatment: Stem Cell Transplant

Some children with rhabdoid tumours require an even more intensive treatment called a stem cell transplant, also known as a bone marrow transplant. This procedure is used alongside high-dose chemotherapy to give children the best possible chance of beating the cancer.^[9]

The process works in a specific sequence. Before chemotherapy begins, doctors collect healthy stem cells from the child’s body. Stem cells are special early cells made by the bone marrow—the spongy material inside bones—that develop into red blood cells (which carry oxygen), white blood cells (which fight infection), and platelets (which help blood clot). After collection, these healthy cells are frozen and stored safely.^[9]

The child then receives very high doses of chemotherapy designed to kill as many cancer cells as possible. However, these powerful drugs also destroy the bone marrow, leaving the body unable to produce new blood cells. Once the high-dose chemotherapy is complete, doctors return the previously collected healthy stem cells to the child’s body through an intravenous line (similar to receiving a blood transfusion). These stem cells travel to the bone marrow and begin producing new, healthy blood cells, essentially “rescuing” the child’s ability to make blood cells.^[9]

This approach allows doctors to use much stronger doses of chemotherapy than would otherwise be possible. The transplant procedure itself is complex and requires hospitalisation, typically for several weeks. During the recovery period before the new stem cells start working, children are at very high risk of infection and bleeding and require intensive medical support. Despite these challenges, stem cell transplant combined with high-dose chemotherapy represents one of the most aggressive treatment strategies available for rhabdoid tumours.^[20]

Emerging Therapies in Clinical Trials

Because rhabdoid tumours remain difficult to treat with standard therapies, researchers are actively testing new treatment approaches in clinical trials. Clinical trials are carefully controlled research studies that test whether new treatments are safe and effective before they become widely available. These trials represent hope for better outcomes and are conducted in phases, each with a specific purpose.^[12]

In Phase I trials, researchers test a new treatment in a small group of people for the first time to evaluate its safety, determine appropriate dosing, and identify side effects. Phase II trials involve more participants and focus on whether the treatment actually works against the cancer—whether it shrinks tumours or stops them from growing. Phase III trials compare the new treatment directly with current standard treatments to see if it works better, has fewer side effects, or offers other advantages.^[13]

Scientists have discovered that nearly all rhabdoid tumours have changes in a gene called SMARCB1 (also called INI1, SNF5, or BAF47). This gene normally acts as a tumour suppressor, meaning it helps prevent cells from growing uncontrollably. When this gene is mutated or missing, cells can multiply rapidly and form tumours. Understanding this genetic basis has opened new avenues for developing targeted therapies that work specifically on the molecular pathways affected by SMARCB1 loss.^[12]

Researchers are investigating several innovative approaches based on this genetic understanding. Some experimental treatments focus on restoring the function that is lost when the SMARCB1 gene is damaged. Others target the ways that cancer cells survive and grow when this important control mechanism is missing. These molecularly targeted therapies aim to attack cancer cells more precisely while causing less harm to healthy cells than traditional chemotherapy.^[12]

Clinical trials for rhabdoid tumours are conducted at major children’s cancer centres in various locations, including the United States and Europe. Not all children are eligible for every trial—eligibility depends on factors such as the child’s age, where the tumour is located, whether it has spread, what treatments have already been tried, and the child’s overall health. Families interested in clinical trials should discuss this option with their child’s oncology team, who can provide information about available trials and help determine if participation might be appropriate.^[13]

Participation in clinical trials is always voluntary, and families can withdraw at any time. Children enrolled in trials receive careful monitoring and follow-up care. While experimental treatments may not work for everyone, families who choose to participate contribute valuable information that helps researchers develop better treatments for future children with rhabdoid tumours.^[12]

Most common treatment methods

• Surgery
  • Surgical removal of as much tumour tissue as possible, which may require multiple operations if the tumour is very large
  • Even with complete tumour removal, additional treatments are necessary to eliminate remaining cancer cells
• Chemotherapy
  • High-dose chemotherapy using combinations of drugs including cyclophosphamide, cisplatin, etoposide, vincristine, carboplatin, ifosfamide, doxorubicin, methotrexate, thiotepa, and cytarabine
  • Treatment extends over many months with multiple cycles
  • Often only partially effective at shrinking rhabdoid tumours, requiring combination with other treatments
• Radiation therapy
  • Focal radiation directed at the tumour site
  • Craniospinal radiation for the skull and spine when cancer has spread
  • Not recommended for children under 3 years due to effects on developing brain tissue
• Stem cell transplant
  • Also called bone marrow transplant, used to replace healthy cells destroyed by high-dose chemotherapy
  • Involves collecting the child’s own stem cells before treatment, then returning them after intensive chemotherapy
  • Allows for use of much higher chemotherapy doses than would otherwise be safe
• Clinical trial treatments
  • Experimental therapies targeting the molecular pathways affected by SMARCB1 gene loss
  • Innovative approaches under investigation in Phase I, II, and III trials
  • Available at specialised children’s cancer centres in the US and Europe