Rhabdoid Tumor - Symptoms, Diagnosis and Treatment

What Is Rhabdoid Tumor?

A rhabdoid tumor (RT) is an aggressive juvenile soft tissue sarcoma that develops in the kidney, liver, peripheral nerves, and other soft tissues throughout the body. Atypical teratoid rhabdoid tumor is a kind of rhabdoid tumor (RT) that affects the central nervous system (CNS).

A rhabdoid tumor (RT) is most commonly seen in infancy or childhood. Most of the time, the early symptoms are caused by the compressive effects of a large tumor, such as respiratory distress, abdominal mass, and peripheral nerve palsy.

What Is the Etiology of Rhabdoid Tumor?

The etiology is unknown in most cases of rhabdoid tumor (RT); however, a change in the DNA (deoxyribonucleic acid) of a gene called SMARCB1 may play a role in the growth of this tumor. Scientists are attempting to understand how this occurs to develop novel therapies.

In around 90 % of instances, it is caused by a genetic mutation in the tumor suppressor gene SMARCB1. In addition, a genetic mutation in the SMARCA4 gene may cause it in rare situations.

What Is the Occurrence of Rhabdoid Tumor?

Rhabdoid tumors are rare. According to some research, fewer than one person in a million has this form of uncommon tumor. It is most frequent in babies between 11 to 18 months. A rhabdoid tumor is a form of tumor composed of several giant cells. Some rhabdoid tumors can develop in the brain and be atypical teratoid rhabdoid tumors.

They often grow in the kidneys and other soft tissues, such as the muscles linked to the skeleton's bones. Extracranial malignant rhabdoid tumor, malignant rhabdoid tumor (MRT), refers to rhabdoid tumors that develop outside the brain. Rhabdoid tumors increase rapidly and spread to other regions of the body.

How Is Rhabdoid Tumor Classified?

Rhabdoid tumors are classified as follows:

1. Atypical Teratoid or Rhabdoid Tumors - Tumors present in the central nervous system.

2. Malignant Rhabdoid Tumors - Tumors present in the other parts of the body.

What Are the Signs and Symptoms of Rhabdoid Tumor?

A clinician utilizes the symptoms of the rhabdoid tumor to make a diagnosis. The rhabdoid tumor symptoms include:

• A lump in the abdomen.

• Crankiness and irritated infant.

• Urinary incontinence.

• Blood in the urine.

• Fever.

• Vomiting and nausea.

• Drowsiness.

• Reduced activity level.

• Lack of coordination or difficulty walking.

• Increase in the size of the head.

What Are the Risk Factors for Rhabdoid Tumor?

A risk factor increases the chances of rhabdoid tumors compared to individuals without the risk factors. Certain risk factors are more significant than others. Furthermore, the absence of a risk factor does not rule out the possibility of developing the illness. Rhabdoid Tumor risk factors include:

• The Child's Age: Newborns and very young children are frequently affected.

• Prevalence: Boys are at a more significant risk than girls.

• Hereditary Predisposition: Close family members with rhabdoid tumors or other brain tumors.

How Is Rhabdoid Tumor Diagnosed?

Diagnostic techniques for the rhabdoid tumor are employed to detect and determine whether cancer has spread. In addition, the histologic test is also used to confirm the diagnosis of rhabdoid tumors. The following tests help diagnose rhabdoid tumor:

• Examinations of the blood.

• Complete blood cell count.

• Calcium in the blood.

• Urine analysis.

• Imaging.

• Computed tomography (CT) scan.

• Magnetic resonance imaging (MRI).

• Ultrasound.

• Imaging the brain using magnetic resonance imaging (MRI), computed tomography (CT) scan, fluorodeoxyglucose (FDG), and positron emission tomography (PET).

• Biopsy.

• SMARCB1 gene testing.

What Is the Treatment for Rhabdoid Tumor?

A combination of therapies is used to treat rhabdoid tumors as it is more effective than using a single treatment alone in destroying tumor cells.

Surgery- Rhabdoid central nervous system tumors are diagnosed and treated surgically. Even if all visible cancer at the surgery is eliminated, most people are also given chemotherapy and maybe radiation therapy to eradicate any remaining cancer cells. In addition, adjuvant therapy is a treatment provided after surgery to reduce the probability of cancer returning. This procedure removes as much cancer as feasible. Sometimes the entire tumor is removed in total.

Radiation Therapy- Radiation therapy kills tumor cells while shrinking the tumor. The type of tumor being treated determines the radiation treatment used and whether it has spread. External radiation is used to treat the brain and spinal cord. As radiation therapy might impact growth and brain development in young children, especially those aged three and under, the dose is lowered than in older children.

High-Dose Chemotherapy and Stem Cell Transplant- High-dose chemotherapy employs chemotherapeutic medications to kill tumor cells that are quickly growing. However, there are always side effects to chemotherapy. Large-dose chemotherapy with stem cell transplant is a technique for administering high doses of chemotherapy while also replenishing blood-forming cells damaged by cancer treatment. Stem cells are immature blood cells extracted from the person’s or donor's blood or bone marrow and then frozen and kept. After the treatment, the stored stem cells are thawed and infused back into the patient. These reinfused stem cells develop into and replenish blood cells in the body.

Targeted Therapy- is medicine or substance used to attack specific cancer cells. Targeted therapies are less likely to harm normal cells than chemotherapy or radiation therapy. The use of targeted therapy in treating recurring rhabdoid tumors is beneficial.

What Are the Side Effects of Treatment?

Side effects of cancer treatment may occur during or after treatment and last for months or years. Cancer therapy may have the following long-term effects:

• Physical issues.

• Changes in mood, feelings, thinking, learning, or memory.

• New types of cancer.

Some late consequences are treatable or controllable. It is critical to speak with the doctors about the impact of cancer therapy on the child.

What Is the Prognosis of Rhabdoid Tumor?

Prognosis assesses the outcome of the treatment and is determined by a variety of circumstances, including:

• The location of the tumor.

• The spread of cancer to other organs.

• The amount of tumor left after surgery.

Children with rhabdoid tumors have an extremely dismal prognosis. Although there are a few cases of long-term survival, most children survive only a few years. However, children diagnosed after two have a better prognosis than those diagnosed before.

Conclusion:

Rhabdoid tumors are rare malignant tumors of soft tissue, the brain, and the kidney. They can affect older children and adults but mainly children under three. Rhabdoid tumors can develop anywhere in the brain or spinal cord but are most frequently seen in the cerebellum or brainstem. They often spread throughout the central nervous system, are of high grade, and tend to expand. Rhabdoid tumors that have returned after therapy are referred to as recurrent tumors. Thus, early management of symptoms and treatment is necessary.