Rhabdomyosarcoma
What is Rhabdomyosarcoma?
Rhabdomyosarcoma is a rare type of cancer that starts in skeletal muscle cells. Skeletal muscles are the muscles that attach to your bones and help you move. This cancer can develop anywhere in the body but most often appears in the head, neck, bladder, or arms and legs.
Rhabdomyosarcoma is most common in children and teenagers. About two thirds of cases are diagnosed in children under age 10. It accounts for roughly 3% of all childhood cancers. The cancer cells look like developing muscle cells in an early stage of growth but never mature into working muscle tissue.
This cancer can spread quickly to nearby tissue and other parts of the body. Early detection and treatment are important for the best outcomes. While rhabdomyosarcoma is rare and serious, treatment has improved significantly over the past few decades.
Symptoms
- A lump or swelling that keeps growing and may be painful
- Bulging or swelling of the eye if the tumor is behind the eyeball
- Headache and nausea if the tumor is in the head or neck area
- Trouble urinating or blood in urine if the tumor is near the bladder
- Bleeding from the nose, throat, vagina, or rectum
- Earache or sinus congestion that does not go away
- Weakness or numbness in arms or legs
- Unexplained fever or weight loss
Some people may not notice symptoms early on, especially if the tumor is small or located deep in the body. Symptoms depend on where the tumor grows and how large it becomes.
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Causes and risk factors
Rhabdomyosarcoma develops when muscle cells grow out of control due to changes in their DNA. These genetic changes are usually not inherited from parents. Instead, they happen randomly during early development or childhood. The exact reason these DNA changes occur is not well understood. Most children who develop this cancer have no known risk factors.
Certain rare genetic conditions can increase risk, including Li-Fraumeni syndrome, neurofibromatosis type 1, Beckwith-Wiedemann syndrome, and Costello syndrome. Children with these conditions have a higher chance of developing various cancers. Having a parent who was diagnosed with cancer at a young age may slightly increase risk. Overall, rhabdomyosarcoma is not caused by anything the child or parents did or did not do.
How it's diagnosed
Diagnosis starts with a physical exam and medical history. Your doctor will check for lumps or swelling and ask about symptoms. Imaging tests like MRI, CT scans, or ultrasound help locate the tumor and see how far it has spread. A biopsy is required to confirm the diagnosis. During a biopsy, a small piece of tissue is removed and examined under a microscope.
Blood tests may be used to check overall health and look for certain markers. Some tumors produce high levels of insulin-like growth factor 2, or IGF-2, which can be measured in blood. However, specialized testing and imaging are the primary diagnostic tools. Talk to your doctor about which tests are right for your situation. Our medical team can help guide you through the testing process.
Treatment options
- Chemotherapy using combinations of cancer-fighting drugs to shrink tumors
- Surgery to remove the tumor when possible
- Radiation therapy to kill cancer cells in a specific area
- Clinical trials testing new treatments and drug combinations
- Supportive care to manage side effects and maintain nutrition
- Physical therapy to maintain strength and function during treatment
- Regular follow-up scans to monitor for recurrence
Frequently asked questions
Survival rates depend on several factors including tumor location, size, stage at diagnosis, and how well the cancer responds to treatment. Overall five-year survival rates range from 50% to 90%. Children with localized disease that has not spread have the best outcomes. Early detection and modern treatment protocols have significantly improved survival over the past 30 years.
Children under age 10 are most at risk, though it can occur in teenagers and adults. Boys are slightly more likely to develop it than girls. Children with certain rare genetic syndromes like Li-Fraumeni syndrome or neurofibromatosis have higher risk. Most cases occur in children with no known risk factors.
The most common sites are the head and neck region, including the eye area and sinuses. It also frequently develops in the urinary and reproductive organs, especially the bladder. Arms, legs, and the trunk are other common locations. Rhabdomyosarcoma can develop anywhere in the body that has skeletal muscle tissue.
Blood tests alone cannot diagnose rhabdomyosarcoma. A tissue biopsy is required for diagnosis. However, some tumors produce elevated levels of IGF-2, a growth factor that can be measured in blood. Blood tests are also used to assess overall health before and during treatment.
The first sign is often a lump or swelling that continues to grow. The location determines other symptoms. Eye tumors may cause bulging or vision problems. Bladder tumors may cause blood in urine or difficulty urinating. Head and neck tumors may cause headaches, nosebleeds, or sinus congestion that does not improve.
Rhabdomyosarcoma is a soft tissue sarcoma that starts in muscle cells. It is much more common in children than adults, unlike most cancers. It tends to grow and spread quickly compared to some other childhood cancers. The cancer cells resemble immature muscle cells that never fully develop into working muscle tissue.
Treatment typically lasts 6 to 12 months or longer depending on the stage and location. Most children receive chemotherapy, which may start before surgery to shrink the tumor. Surgery and radiation may follow. Treatment plans are individualized based on risk group and how well the tumor responds to initial therapy.
Yes, rhabdomyosarcoma can recur, which means it comes back after treatment. Recurrence happens in about 30% of cases. It most often occurs within the first two to three years after treatment. Regular follow-up appointments with imaging scans help detect recurrence early when it is most treatable.
Good nutrition is important during cancer treatment to maintain strength and help the body heal. Eating enough protein and calories helps support recovery. Gentle physical activity as tolerated can help maintain muscle strength and reduce fatigue. Working with a dietitian and physical therapist can provide personalized guidance throughout treatment.
Most cases of rhabdomyosarcoma are not hereditary and occur randomly. However, certain rare genetic syndromes that run in families do increase risk. These include Li-Fraumeni syndrome, neurofibromatosis type 1, and Beckwith-Wiedemann syndrome. If your family has a history of early cancers, genetic counseling may be helpful.