Rhabdomyosarcoma (RMS) is a rare type of cancer that forms in soft tissue — specifically skeletal muscle tissue or sometimes hollow organs such as the bladder or uterus. RMS can occur at any age, but it most often affects children.

Although RMS can arise anywhere in the body, it's more likely to start in the:

• Head and neck area
• Urinary system, such as the bladder
• Reproductive system, such as the vagina, uterus and testes
• Arms and legs

The outlook (prognosis) and treatment decisions depend on the type of rhabdomyosarcoma, where it starts, tumor size and whether the cancer has spread. Treatment is usually with a combination of surgery, chemotherapy and radiation therapy.

Major advancements in the treatment of rhabdomyosarcoma have significantly improved outcomes. After completion of treatment, people need lifelong monitoring for potential late effects of intense chemotherapy and radiation.

Signs and symptoms of rhabdomyosarcoma depend on where the cancer is located.

For example, if the cancer is in the head or neck area, signs and symptoms may include, among others:

• Headache
• Bulging or swelling of the eyes
• Bleeding in the nose, throat or ears

If the cancer is in the urinary or reproductive system, signs and symptoms may include, among others:

• Trouble urinating and blood in the urine
• Difficulty with bowel movements
• A mass or bleeding in the vagina or rectum

If the cancer is in the arms or legs, signs and symptoms may include, among others:

• Swelling or a lump in the arm or leg
• Pain in the affected area, though sometimes there is no pain

It's not clear what causes rhabdomyosarcoma.

Doctors know that rhabdomyosarcoma begins when a cell develops changes in its DNA. A cell's DNA contains the instructions that tell a cell what to do. The changes tell the cell to multiply quickly and to go on living when healthy cells would normally die. The result is a mass (tumor) of abnormal cells that can invade and destroy healthy body tissue. The abnormal cells can break away and spread (metastasize) throughout the body.

Factors that may increase the risk of rhabdomyosarcoma include:

• Family history of cancer. The risk of rhabdomyosarcoma is higher in children with a blood relative, such as a parent or sibling, who has had cancer, particularly if that cancer occurred at a young age. But most children with rhabdomyosarcoma have no family history of cancer.
• Genetic syndromes that increase the risk of cancer. In rare instances, rhabdomyosarcoma has been linked to genetic syndromes that are passed from parents to children, including neurofibromatosis 1, Noonan syndrome, Li-Fraumeni syndrome, Beckwith-Wiedemann syndrome and Costello syndrome.

Complications of rhabdomyosarcoma and its treatment include:

• Cancer that spreads (metastasizes). Rhabdomyosarcoma can spread from where it started to other areas, making treatment and recovery more difficult. Rhabdomyosarcoma most often spreads to the lungs, lymph nodes and bones.
• Long-term treatment side effects. The aggressive treatments needed to control rhabdomyosarcoma can cause substantial side effects, in both the short and the long terms. Your health care team can help you manage the side effects that happen during treatment and provide you with a list of side effects to watch for in the years after treatment.

Rhabdomyosarcoma diagnosis usually begins with a physical exam to better understand the symptoms you or your child may be experiencing. Based on those findings other tests and procedures may be recommended.

Imaging tests

Your doctor may recommend one or more imaging tests to investigate symptoms, look for cancer and look for signs that the cancer has spread.

Imaging tests may include:

• X-ray
• Computerized tomography (CT)
• Magnetic resonance imaging (MRI)
• Positron emission tomography (PET)
• Bone scan

Removing a sample of tissue for testing (biopsy)

A biopsy procedure is used to collect a sample of suspicious cells for laboratory testing. Tests can show whether the cells are cancerous and determine the type of cancer.

Types of biopsy procedures used to diagnose rhabdomyosarcoma include:

• Needle biopsy. The doctor inserts a thin needle through the skin and guides it into the tumor. The needle is used to remove small pieces of tissue from the tumor.
• Surgical biopsy. The doctor makes an incision through the skin and removes either the entire tumor (excisional biopsy) or a portion of the tumor (incisional biopsy).

Determining the type of biopsy needed and the specifics of how it should be performed requires careful planning by the medical team. Doctors need to perform the biopsy in a way that won't interfere with future surgery to remove the cancer. For this reason, ask your doctor before the biopsy for a referral to a team of experts with extensive experience in treating rhabdomyosarcoma.

Rhabdomyosarcoma treatment usually involves a combination of treatments, including chemotherapy, surgery and radiation therapy.

Which treatments your doctor recommends will depend on the location of the cancer, the size of the tumor, whether the cells are aggressive, and whether the cancer is confined to one area (localized rhabdomyosarcoma) or it has spread to other areas of the body (metastatic rhabdomyosarcoma).

Surgery

The goal of surgery is to remove all of the cancer cells. But it's not always possible to do that if the rhabdomyosarcoma has grown around or near organs or other important structures. When the cancer can't be removed completely with surgery, doctors may remove as much as possible and then use other treatments, such as chemotherapy and radiation, to kill any cancer cells that might remain.

Chemotherapy

Chemotherapy uses powerful drugs to kill cancer cells. The treatment usually involves a combination of drugs, which are usually administered through a vein. Which drugs are given and how often varies depending on your particular situation.

Chemotherapy is often used after surgery or radiation therapy to kill any cancer cells that might remain. It can also be used before other treatments to shrink a tumor to make surgery or radiation therapy more effective.

Radiation therapy

Radiation therapy uses high-energy beams, such as X-rays and protons, to kill cancer cells. It's usually done with a machine that moves around you as it aims the radiation at precise points on the body.

Radiation therapy might be recommended after surgery to kill any cancer cells that remain. It can also be used instead of surgery when the rhabdomyosarcoma is located in an area where surgery isn't possible because of nearby organs or other important structures.

Clinical trials

Clinical trials are studies to investigate new ways of treating cancer. Ask your doctor or your child's doctor about whether you may be eligible to join a trial.

A diagnosis of rhabdomyosarcoma can be frightening — especially for the family of a newly diagnosed child. With time you'll find ways to cope with the distress and uncertainty of cancer. Until then, you may find that it helps to:

• Learn enough about rhabdomyosarcoma to make decisions about care. Ask your doctor about this sarcoma, including treatment options. As you learn more, you may become more confident in understanding and making decisions about treatment options. If your child has cancer, ask the health care team for guidance on sharing this information in a caring and age-appropriate way.
• Keep friends and family close. Keeping your close relationships strong can help you deal with cancer. Friends and relatives can provide the practical support you'll need, such as helping take care of your home if your child is in the hospital. And they can serve as emotional support when you feel overwhelmed.
• Ask about mental health support. The concern and understanding of a counselor, medical social worker, psychologist or other mental health professional also may help you. If your child has cancer, ask your health care team for advice on providing emotional and social support and options for professional mental health support. You can also check online for a cancer organization, such as the American Cancer Society, that lists support services.

If there are signs and symptoms that worry you, you'll likely start by making an appointment with your primary care doctor — or the pediatrician if the concern is with your child. If your doctor suspects rhabdomyosarcoma, make sure you're referred to an experienced specialist.

Rhabdomyosarcoma typically needs to be treated by a team of specialists, which may include:

• Orthopedic surgeons who specialize in operating on cancers that affect the bones or muscles (orthopedic oncologists)
• Other surgeons, depending on the location of the tumor and patient age (for example, chest surgeons, pediatric surgeons or urologists)
• Doctors who specialize in treating cancer with chemotherapy or other systemic medications (medical oncologists or, for children, pediatric oncologists)
• Doctors who use radiation to treat cancer (radiation oncologists)
• Doctors who analyze tissue to diagnose the specific type of cancer (pathologists)
• Rehabilitation specialists who can help in recovery after surgery

What you can do

Before the appointment, make a list of:

• Signs and symptoms, including any that seem unrelated to the reason for the appointment
• Any medications being taken, including vitamins, herbs and over-the-counter medicines, and their dosages
• Key personal information, including any major stresses or recent life changes

Also:

• Bring previous scans or X-rays (both the images and the reports) and any other medical records related to this situation
• Consider taking a relative or friend along to help you remember all the information provided during the appointment
• Prepare a list of questions to ask the doctor to make the most of your time

Whether the appointment is for you or for your child, your questions might include, for example:

• What type of cancer is this?
• Has the cancer spread?
• Are more tests needed?
• What are the treatment options?
• What are the chances that treatment will cure this cancer?
• What are the side effects and risks of each treatment option?
• Will treatment affect the ability to have children? If so, do you offer fertility preservation evaluations and services?
• Are there any brochures or other printed material that I can have? What websites do you recommend?

What to expect from your doctor

Your doctor will likely ask several questions. Be ready to answer them to allow more time to cover other points you want to address. Whether the appointment is for you or for your child, the doctor may ask:

• What are the signs and symptoms that you're concerned about?
• When did you first notice these symptoms?
• Have the symptoms been continuous or occasional?
• How severe are the symptoms?
• What, if anything, seems to improve the symptoms?
• What, if anything, appears to worsen the symptoms?