Rhabdomyosarcoma

Successfully diagnosing and treating your child’s rhabdomyosarcoma involves staging and classifying the disease, which will help your child's doctor determine treatment options and prognosis. Staging is the process of determining whether the cancer has spread and, if so, how far.

Rhabdomyosarcoma is typically divided into two groups. These are:

• Embryonal rhabdomyosarcoma (ERMS). This is the most common form of the cancer, usually occurring in children under 6 years of age.
• Alveolar rhabdomyosarcoma (ARMS). This type is found more frequently in older children and accounts for about 20 percent of all cases.

As a parent, you undoubtedly want to know what may have caused your child’s tumor. In most cases doctors don't know what leads to rhabdomyosarcoma. Rhabdomyosarcoma is not associated with environmental factors, and it is important to keep in mind that there is nothing you could have done, or avoided doing, that would have prevented the tumor from developing.

Some rhabdomyosarcoma tumors are thought to begin developing in the fetus. Rhabdomyoblasts are the cells at the initial stages of development of an unborn baby. These cells will mature and develop into muscles. Rhabdomyosarcomas usually have some type of chromosome abnormality or genetic mutation in the cells of the tumor.

Your child may not experience any symptoms of rhabdomyosarcoma until the tumor is very large, especially if it is located deep in the muscles or stomach. Common symptoms may include:

• A mass that can be seen or felt and may or may not be painful
• Bleeding from the nose, vagina, rectum or throat (if the tumor is located in these areas)
• Tingling, numbness or pain if the tumor compresses a nerve in the affected area
• Protrusion of the eye or drooping of the eyelid, which may indicate a tumor behind the eye

Keep in mind that some similar symptoms can be associated with more common medical problems and conditions. It is important to consult your child's physician for a diagnosis.

The first step in treating your child is forming an accurate and complete diagnosis. A physician may order a number of different tests to diagnose rhabdomyosarcoma. In addition to a medical history and physical exam, these may include:

• Blood and urine tests, including a complete blood count.
• Computerized tomography (CT or CAT) scan – Detailed images of any part of the body, including the bones, muscles and fat.
• Magnetic resonance imaging (MRI) – A test that uses a combination of large magnets, radiofrequencies and a computer to produce detailed images of organs and structures within the body.
• X-ray – A diagnostic test that uses invisible electromagnetic energy beams to produce images of internal tissues, bones, and organs.
• Ultrasound (also called sonography) – Used to view internal organs as they function and to assess blood flow through various vessels.
• Bone scans – Pictures or x-rays taken of the bone after a dye has been injected that is absorbed by bone tissue. These are used to detect tumors and bone abnormalities.
• Bone marrow biopsy and/or aspiration – A procedure that involves taking a small amount of bone marrow fluid and tissue, usually from part of the hip bones, to examine the number, size and maturity of blood cells and/or abnormal cells.
• Biopsy – A sample taken of the primary tumor and/or metastatic lesions
• Lumbar puncture (spinal tap) – Inserting a special needle through the lower back into the spinal canal, the area around the spinal cord. The pressure in the spinal canal and brain can then be measured. A small amount of cerebral spinal fluid (CSF) can be removed and sent for testing to determine if there is an infection or other problems. CSF is the fluid that bathes your child's brain and spinal cord.

Treatment for rhabdomyosarcoma requires close coordination between surgeons, pediatric oncologists and radiotherapists. The response of tumors is very much dependent on their site of origin.

A series of studies have been performed by the Intergroup Rhabdomyosarcoma Study (IRS), now a part of the Children’s Oncology Group which has outlined the treatment of rhabdomyosarcoma. Dana-Farber/Boston Children’s plays an active role in this organization.

Treatment for rhabdomyosarcoma may include:

• Surgery: Surgery is often a first step, allowing doctors to form a complete diagnosis of the tumor type and providing information on the stage of the disease. Complete surgical removal of a rhabdomyosarcoma is often not possible.
• Radiation therapy: This treatment can help stop the growth of abnormal cells in specific areas of the body. Radiation therapy uses high-energy rays from a specialized machine to damage or kill abnormal cells.
• Chemotherapy: These medicines can help stop the growth of abnormal cells throughout the body. Chemotherapy is systemic treatment, meaning it is introduced to the bloodstream and travels throughout the body to kill or slow the growth of targeted cells. Different groups of chemotherapy drugs work in different ways, and can be taken in a variety of ways including orally or intravenously.
  While chemotherapy can be quite effective in treating certain cancers, the agents don't completely differentiate normal healthy cells from abnormal cells. Because of this, your child could have adverse side effects during treatment.

Deciding on which of these approaches to use depends largely on the tumor's site. For instance, a sarcoma in the muscles of the arms or legs is often initially treated with surgical removal, which may be followed by chemotherapy with or without radiation. A tumor in the bladder or prostate requires chemotherapy prior to attempts at surgical removal or treatment with radiation. Tumors around the eye are very responsive to chemotherapy and radiation, so they rarely require surgical removal.

Receiving care at the Dana-Farber/Boston Children's means that your child will have access to cutting-edge therapies being tested by the nation's top researchers in pediatric cancer. We are the New England Phase I Center for the Children's Oncology Group, a group of cancer researchers from around the world dedicated to finding new treatments for pediatric cancer.

Our scientists are conducting numerous research studies to help doctors better understand and treat soft-tissue sarcomas. Treatments being evaluated include angiogenesis inhibitors, which are substances that might be able to prevent the growth of tumors; and biological therapies, which harness the body's immune system to fight cancer or lessen side effects.

Clinical trials

For many children with rare or hard-to-treat conditions, clinical trials provide new options

• Search our open solid tumor clinical trials.
• Get answers to common questions about clinical trials for cancer and blood disorders.

Contact us: If you’re not sure which clinical trials might be right for your child, email us at clinicaltrials@danafarberbostonchildrens.org. We can help you navigate your options.

The prognosis for children with rhabdomyosarcoma varies, but more than 70% survive five years after diagnosis if they have localized disease and receive combination therapy. After five years of disease-free survival, relapses are rare. Prompt medical attention and aggressive therapy are critical for the best prognosis.

Your child's outcome will likely depend on a number of factors, including:

• the extent of the disease
• the size and location of the tumor
• the tumor's characteristics when examined under a microscope
• the presence or absence of metastasis
• the tumor's response to therapy
• the age and overall health of your child
• your child's tolerance of specific medications, procedures, or therapies
• new developments in treatment

You and your child will need to monitor the late effects of treatment and continue to consult with your medical team after your child's cancer is in remission. This will likely include visiting a cancer survivorship clinic every year to screen for recurrence and manage disease complications.

Through the David B. Perini Jr. Quality of Life Clinic, our cancer survivorship clinic, childhood cancer survivors receive a comprehensive follow-up evaluation from their cancer care team. In addition to meeting with your pediatric oncologists, your child may see one of our endocrinologists, cardiologists, neurologists, neuro-psychologists or alternative/complementary therapy specialists. We also offer patient and family education, psychosocial assessment, genetic counseling, reproductive counseling and opportunities to speak with other childhood cancer survivors.