Rhabdomyosarcoma

What is rhabdomyosarcoma?

Rhabdomyosarcoma is a rare type of cancer known as soft tissue sarcoma. It develops in your skeletal muscles. Rhabdomyosarcoma mostly affects children and teenagers but can affect adults as well. Each year, between 400 and 500 people in the U.S. receive a diagnosis of rhabdomyosarcoma.

There are different types of rhabdomyosarcomas, some of which are aggressive and more difficult to treat. In some cases, treatment often puts the condition into remission, but rhabdomyosarcoma can come back (cancer recurrence).

Types of this condition

There are several types of rhabdomyosarcomas:

• Embryonal rhabdomyosarcoma: This is the most common type of rhabdomyosarcoma. It affects more children than adults. It typically develops in the head and neck, including the membrane that covers your child’s brain, eye socket and other parts of their head and neck. Subtypes of embryonal rhabdomyosarcoma may also develop in hollow organs like your child’s bladder and vagina (botryoid rhabdomyosarcoma) or in the area around your child’s testicles (spindle cell rhabdomyosarcoma).
• Alveolar rhabdomyosarcoma: This condition affects older children, teenagers and young adults between the ages of 20 and 35. It typically develops in your arms, legs or trunk (torso). Alveolar rhabdomyosarcoma is aggressive, meaning it spreads quickly soon after it develops.
• Pleomorphic rhabdomyosarcoma: This type typically affects adults ages 50 and older. It can develop anywhere in your body but mostly affects your legs. It also appears in your arms, chest, belly (abdomen), and parts of your head and neck.

What are the symptoms of rhabdomyosarcoma?

Symptoms vary depending on the tumor’s location. For example, a tumor in your child’s ear may cause earache or discharge from their ear. A tumor behind your eye may make it swell or bulge out of the socket. Other symptoms by tumor location include:

• Arm or leg muscle: Mass, lump or swelling that may be painful.
• Belly (abdomen): Belly pain, constipation or vomiting.
• Bladder and urinary tract: Blood in urine (hematuria) or difficulty peeing.
• Nasal cavity: Nosebleed (epistaxis) or sinus infection symptoms.
• Vagina: Mass or lump growing from your child’s vagina.
• Testicles: Fast-growing mass or lump around your child’s testicles.

Rhabdomyosarcoma symptoms may resemble less serious conditions. Many health issues can cause symptoms like nosebleeds, vomiting or lumps and bumps and may not be symptoms of rhabdomyosarcoma. That being said, you should contact a healthcare provider if you or your child have symptoms or changes that don’t go away or seem to be getting worse.

What causes rhabdomyosarcoma?

Rhabdomyosarcoma happens when immature muscle cells mutate, becoming cancerous cells that multiply and create tumors. Certain genetic mutations, including a change that creates the fusion gene PAX/FOX01, may cause a type of rhabdomyosarcoma. People with certain inherited disorders have an increased risk of developing the condition:

• Li Fraumeni syndrome.
• Beckwith Wiedemann syndrome.
• Neurofibromatosis.
• Costello syndrome.
• Cardiofasciocutaneous syndrome.

How is rhabdomyosarcoma diagnosed?

A healthcare provider will ask about your or your child’s symptoms. They’ll also ask about your family medical history to learn if anyone has an inherited disorder that increases the risk of rhabdomyosarcoma.

They’ll do a physical examination to look for symptoms like lumps or growths. Providers may do the following tests to diagnose rhabdomyosarcoma:

• Computed tomography (CT) scan or magnetic resonance imaging (MRI) scan.
• Positron emission tomography (PET) scan.
• Bone scan.
• Lumbar puncture.
• Bone marrow biopsy.
• Biopsy to obtain tissue samples.
• Immunohistochemistry.
• Cytology tests.

Does rhabdomyosarcoma show up in bloodwork?

No, it doesn’t. Your or your child’s oncologist may order blood tests after they diagnose rhabdomyosarcoma. For example, they may do a complete blood count (CBC) test to see if the condition has spread to your bone marrow. They may do blood tests to monitor rhabdomyosarcoma treatment.

Rhabdomyosarcoma risk groups

Oncologists who care for children with rhabdomyosarcoma classify the condition by risk group. They establish risk group classification based on three factors:

• Tumor stage: Medical pathologists use the TNM staging system to establish the rhabdomyosarcoma stage. T stands for tumor size and location, N stands for signs of cancerous cells in lymph node location and M stands for metastasis, or if a tumor spreads from where it started.
• Clinical group: This classification reflects the outcome of tissue biopsies or initial surgeries. For example, if a biopsy or surgery completely removes a tumor, the case receives Group I classification. Group classifications are 1 to 4.
• Gene changes: The presence of the fusion gene PAX/FOX01.

Risk group classifications are low risk, intermediate risk and high risk. Your child’s oncology team uses risk group classification to plan treatment, assess the chance the tumor will come back after treatment and establish a prognosis, or what you can expect to happen after treatment.

The risk group classification process relies on very specific health information. You may not understand all the factors that go into establishing the risk group classification process. Don’t hesitate to ask your child’s care team to explain all the information they use to place your child’s case in a specific risk group. They’ll be glad to explain the process and what it means for your child’s treatment and prognosis.

What are rhabdomyosarcoma treatments?

Treatment varies depending on the condition type. Rhabdomyosarcoma is a rare disease; if you or your child has it, ask the cancer care team about participating in a clinical trial. In general, oncologists use the following treatments:

• Surgery.
• Radiation therapy.
• Chemotherapy.

Can rhabdomyosarcoma be cured?

Sometimes, treatment can cure rhabdomyosarcoma. This is called remission, which means that you don’t have symptoms and tests don’t detect signs of cancer. In many cases, remission is permanent, but rhabdomyosarcoma can come back. In general, adults are less likely to be cured than children.

What is the life expectancy for someone with rhabdomyosarcoma?

There’s no data on how long someone with rhabdomyosarcoma can expect to live. Researchers do track the percentage of people who were alive five years after receiving a diagnosis of rhabdomyosarcoma.

Survival rates vary widely depending on factors like the type of rhabdomyosarcoma, risk group classification and whether the condition comes back after treatment. Overall, 70% of children with this condition were alive five years after diagnosis. The five-year survival rate for adults is 20%.

Regardless of your situation, it’s important to remember that survival rates are estimates based on the experiences of other people who receive treatment for rhabdomyosarcoma. If you or your child have this condition, it’s understandable that you may want to know what to expect. If that’s your situation, your oncology team is your best resource for information.

How do I take care of my child or myself?

Cancer disrupts your daily life, and rhabdomyosarcoma is no exception. If you or your child have this condition, you may feel overwhelmed and under stress. Here are some suggestions that may help:

• Consider palliative care: Cancer symptoms and cancer treatment can be tough to handle. Palliative care is a type of treatment that focuses on quality of life, from easing symptoms to finding mental health support.
• Talk to a child life specialist: Cancer upends children’s lives, taking them away from their friends and activities. Having cancer can be lonely for a child who’s going through something their friends may not understand. Child life specialists are specially trained healthcare providers who help children cope with medical experiences.
• Get some rest: Cancer treatment — and caring for a child with cancer — can be exhausting. If you’re receiving treatment, try to rest whenever you need to, not just when you have time. If you’re caring for a child with rhabdomyosarcoma, talk to your healthcare provider about programs and services that provide respite care.
• Consider cancer survivorship: Rhabdomyosarcoma can come back after treatment. If you or your child are worried cancer will come back, ask your provider about cancer survivorship support.

When should I contact my oncologist?

If you or your child are receiving treatment, contact your oncologist if treatment side effects are stronger than you expect. Depending on your situation, your oncologist may have specific guidance on symptoms that could mean rhabdomyosarcoma is spreading or coming back. Don’t hesitate to contact them with your concerns.

What questions should I ask my doctor?

Rhabdomyosarcoma is a rare disease. You may not know much about it and have questions about what you can expect, whether you have the condition or your child has it. Here are some suggestions:

• What type of rhabdomyosarcoma do I have/does my child have?
• What is the risk group classification?
• What treatments do you recommend?
• What are treatment side effects?
• Are we eligible for any clinical trials?
• What is my child’s prognosis?
• What supportive care can you offer to help us?