Rhabdomyosarcoma (RMS) is a rare type of cancer that forms in soft tissues, specifically skeletal muscle tissue — the muscles we use to move.
Rhabdomyosarcoma (RMS) is a rare type of cancer that develops from cells that are supposed to become skeletal muscle. Skeletal muscles are the muscles we use to move our bodies — like the ones in our arms, legs, and torso. In RMS, these cells, called rhabdomyoblasts, don't mature properly and instead form a cancerous tumor. While it can affect people of any age, it's most commonly diagnosed in children, often before the age of 10.
Early signs of RMS disease are often vague and easily confused with more common childhood illnesses. This makes early diagnosis challenging. Where the tumor first develops greatly influences the specific symptoms. Typing also matters. Some RMS tumors might grow slowly, while others can grow quite quickly. The two most common types of rhabdomyosarcoma are embryonal rhabdomyosarcoma and alveolar rhabdomyosarcoma, often diagnosed by what the cancer cells look like under a microscope.
RMS is a type of soft tissue sarcoma, which is a relatively uncommon type of cancer, making up about 1% of all adult cancers. RMS accounts for 3% annually of all cancers in children, and only a very small percentage in adults.
AHN Sarcoma Center of Excellence
The AHN Sarcoma Center of Excellence is made up of a team of multiple health care experts walking you through every step of your cancer diagnosis and treatment.
Diagnosis and treatment will usually begin with an appointment with our orthopaedic oncology team. The team works closely with providers amongst different medical specialties including:
- Surgeons
- Medical oncology
- Radiation oncology
- Pathology
- Physical therapy
- Occupational therapy
- Plastic surgery
- Nurse Navigators
At AHN, we strive to make your treatment course as painless as possible. We will take care of appointment scheduling, imaging planning, and other aspects of care coordination for our patients so you have time to focus on healing and recovery.
Rhabdomyosarcoma symptoms and signs
Rhabdomyosarcoma (RMS) often does not present easy-to-spot symptoms or signs. Since it develops in the skeletal muscles, early symptoms including pain, swelling, or fatigue can be mistaken for general aches and pains. However, there are some signs and symptoms that can arise in certain parts of the body, including:
- Head/neck: Lump, bulging eye, headache, sinus issues, vision problems, difficulty swallowing.
- Arms/legs: Lump, pain, weakness, difficulty moving the limb.
- Genitourinary: Mass, blood in urine, swelling, difficulty with urination/bowel movements.
- Trunk: Abdominal swelling/pain, constipation, nausea, breathing problems.
Other, more general symptoms can include unexplained weight loss and fatigue. If you have a persistent symptom that doesn't go away or seems unusual, don't hesitate to see a doctor.
Causes and risk factors
The exact cause of rhabdomyosarcoma is often not known. Cancer is caused by changes (mutations) in a cell's DNA. In the case of RMS, these mutations affect the genes that control how muscle cells grow and divide. Normally, cells grow and divide in a controlled way. But when these genes are mutated, the cells start to grow out of control and form a tumor. It is often diagnosed in children under 10 years old.
Rhabdomyosarcoma screening and diagnosis
RMS disease is a rare type of cancer that forms in soft tissue, specifically skeletal muscle tissue. Diagnosis often involves a combination of physical examination, imaging tests, biopsy, and staging procedures.
There are no routine screening tests for rhabdomyosarcoma. Early diagnosis is often challenging because the symptoms can be nonspecific and mimic other conditions.
If rhabdomyosarcoma is suspected, the following procedures may be used to confirm the diagnosis:
- Physical examination: A doctor will examine the patient for any lumps or swelling, as well as assess their overall health.
- Imaging tests: Imaging tests can help visualize the tumor and determine its size and location. These may include:
- Ultrasound
- X-ray
- CT scan
- MRI
- Biopsy: A biopsy involves taking a small tissue sample from the tumor and examining it under a microscope. This is the most definitive way to diagnose rhabdomyosarcoma. An AHN radiologist will perform the biopsy.
- Staging: Once rhabdomyosarcoma is diagnosed, further tests will be done to determine the extent of the cancer (staging). This may involve additional imaging tests, bone marrow aspiration, or a lumbar puncture.
Types and stages of rhabdomyosarcoma
There are two main types, based on how the cancer cells look under a microscope:
- Embryonal rhabdomyosarcoma: Most common type, usually diagnosed in infants and young children. Often develops in tissues around the eyes, in the head and neck region, or in the genitourinary tract. Tends to grow more slowly than alveolar rhabdomyosarcoma.
- Alveolar rhabdomyosarcoma: More common in older children and teenagers. Often found in the arms, legs, chest, or abdomen. Tends to be more aggressive than embryonal rhabdomyosarcoma.
Other less common types are:
- Pleomorphic rhabdomyosarcoma: More common in adults, often found in the arms or legs.
- Spindle cell/sclerosing rhabdomyosarcoma: Can occur at any age, often found in the head and neck region or genitourinary tract.
Staging allows your health care providers to understand the extent of the disease. Once RMS is staged, your care team will be able to determine the best course of treatment. Staging often determines:
- Tumor size: By knowing the tumor size, treatment options can be tailored to reduce or remove the tumor.
- Lymph nodes: If the cancer has spread to the lymph nodes, your care team will include additional treatment to fight off the additional cancer cells.
- Distant spread (metastasis): Similar to spreading the lymph nodes, if the cancer has spread to other parts of the body, your care team may include additional treatment options to attack those cancer cells.
Once your care team has the information they need to stage the cancer, they will often categorize it into specific criteria including:
- Early stage (stages 1 or 2): The cancer is more localized (contained). It may be small and hasn't spread, or it might have spread only to nearby lymph nodes.
- Advanced stage (stages 3 or 4): The cancer is more widespread. It might be a larger tumor, involve more lymph nodes, or have spread to distant parts of the body.
This staging will help your doctors create a treatment plan and determine a prognosis for you.
Rhabdomyosarcoma treatment
RMS is a complex disease, and treatment decisions are tailored to each patient's unique situation. Treatment for rhabdomyosarcoma typically involves a combination of multiple treatment options.
Surgery
When possible, surgery is performed to remove the tumor. The extent of surgery depends on factors like the tumor's size, location, and how far it has spread.
Common surgical procedures for RMS includes:
- Wide local excision: This involves removing the tumor along with a healthy margin of surrounding tissue to reduce the risk of recurrence. This is often the preferred method if the tumor is small and localized.
- Radical excision: This more extensive surgery removes the tumor and a larger area of surrounding tissue, potentially including nearby lymph nodes. It's typically used for larger or more aggressive tumors.
- Limb-sparing surgery: When possible, surgeons prioritize preserving the affected limb. This might involve removing the tumor and reconstructing the affected area with grafts or other techniques.
- Lymph node dissection/biopsy: Lymph nodes near the tumor may be removed and examined to see if the cancer has spread.
- Surgery for metastasis: If the cancer has spread to other areas like the lungs, surgery might be used to remove those tumors as well.
- Debulking surgery: If complete removal isn't possible, surgeons may remove as much of the tumor as safely possible. This can make other treatments like chemotherapy or radiation more effective.
Chemotherapy
Chemotherapy uses powerful drugs to kill cancer cells. It's often used before and/or after surgery to shrink the tumor and destroy any remaining cancer cells. Chemotherapy treatment for RMS is typically given in cycles, with periods of treatment followed by periods of rest to allow the body to recover. Your doctor will determine the most appropriate chemotherapy regimen based on your individual circumstances. Side effects are common with chemotherapy and can vary in severity. Be sure to discuss potential side effects and management strategies with your health care team.
Radiation Therapy
Radiation therapy uses high-energy rays to destroy cancer cells. It may be used in combination with surgery and/or chemotherapy or relieve symptoms and improve quality of life if the cancer is advanced or has spread. Side effects of radiation therapy vary depending on the treatment area, dose, and the individual's sensitivity. Common side effects include skin irritation, fatigue, hair loss in the treated area, and appetite changes. Most side effects are temporary and subside after treatment completion.
Types of radiation therapy used to treat RMS include:
- External Beam Radiation Therapy (EBRT): This is the most common type of radiation therapy. A machine delivers radiation beams from outside the body, precisely targeting the tumor site.
- 3D Conformal Radiation Therapy (3D-CRT): Shapes radiation beams to match the tumor's shape, minimizing damage to surrounding healthy tissues.
- Intensity-Modulated Radiation Therapy (IMRT): A more advanced form of 3D-CRT, allowing for even more precise radiation delivery and dose distribution, further sparing healthy tissues.
- Proton therapy: Uses protons instead of X-rays. Protons deposit most of their energy directly into the tumor, potentially causing less damage to surrounding healthy tissues.
- Brachytherapy: This technique involves placing radioactive sources directly inside or near the tumor. It allows for high radiation doses to be delivered to a small area, minimizing exposure to surrounding healthy tissue. Less commonly used for rhabdomyosarcoma but may be an option in certain situations.
Rhabdomyosarcoma FAQs
Given the rarity of rhabdomyosarcoma, you will most likely have questions when facing a diagnosis. AHN is here to help. Your doctors, oncologists, and surgeons are here to answer any questions and help clarify what your treatment may entail. To get you started, we’ve included some FAQs to help guide your conversations.
How fatal is rhabdomyosarcoma?
Rhabdomyosarcoma is a serious cancer, but it is not always fatal. The outcome (prognosis) depends on several factors, including the stage of the cancer at diagnosis, the type of RMS, the location of the tumor, and the patient's age and overall health. Generally, the earlier the cancer is detected and treated, the better the chances of survival. Survival rates have improved significantly over the years due to advances in treatment.
Is rhabdomyosarcoma cancer curable?
Yes, rhabdomyosarcoma can be curable, especially when diagnosed early and treated aggressively. Many children and adults with RMS achieve long-term remission (no signs of cancer after treatment). However, the likelihood of a cure depends on the factors mentioned above (stage, type, location, etc.). Treatment typically involves a combination of surgery, chemotherapy, and radiation therapy.
What is the life expectancy of someone with rhabdomyosarcoma?
It’s difficult to give a precise life expectancy because it varies so much from person to person. However, here are some general guidelines:
- Overall survival rates: The five-year survival rate for children with RMS is around 70%. This means that about 70% of children with RMS are still alive five years after diagnosis. This number includes all stages and types of RMS.
- Localized disease: If the cancer is localized (hasn't spread), the five -year survival rate can be much higher, often exceeding 80% or 90%.
- Metastatic disease: If the cancer has spread to distant parts of the body (metastasis), the five -year survival rate is lower, typically in the range of 20 – 30%.
It's crucial to remember that these are just averages. Individual outcomes can vary. Your doctor can provide the most accurate information about your specific prognosis.
What are five signs of rhabdomyosarcoma?
The signs of rhabdomyosarcoma depend on the location of the tumor, but here are five potential signs:
- A lump or swelling that may be painless or painful: This is often the most noticeable sign.
- Headaches (if the tumor is in the head or neck): May be accompanied by other neurological symptoms.
- Difficulty swallowing or speaking (if the tumor is in the head or neck): Indicates that the tumor is affecting these functions.
- Weakness in an arm or leg (if the tumor is in a limb): Suggests that the tumor is pressing on nerves or affecting muscle function.
- Constipation or abdominal pain (if the tumor is in the abdomen): Could indicate that the tumor is affecting the digestive system.
How aggressive is rhabdomyosarcoma?
The aggressiveness of rhabdomyosarcoma can vary. There are different types of RMS, and some are more aggressive than others:
- Embryonal Rhabdomyosarcoma: This is the most common type, and it tends to be less aggressive than alveolar RMS.
- Alveolar Rhabdomyosarcoma: This type is generally considered more aggressive and has a higher risk of spreading.
In addition to the type of RMS, other factors that influence aggressiveness include:
- Tumor Size: Larger tumors tend to be more aggressive.
- Location: Tumors in certain locations (e.g., near the spine or in the brain) can be more difficult to treat and may have a poorer prognosis.
- Spread: Whether or not the cancer has spread to lymph nodes or distant sites is a major factor in determining how aggressive it is.
Contact us
To make an appointment you can:
- Call our scheduler: (412) 359-8614
- Schedule online
- Use MyChart and schedule with Dr. Lisa Ercolano to make an appointment
Please bring all relevant imaging on CD or through PowerShare with correlating reports for review by our team to your initial appointment.