Rhabdomyosarcoma (RMS) Treatment

Rhabdomyosarcoma (RMS) is a type of cancer that develops in the soft tissues of the body, specifically in skeletal muscles. These are the muscles attached to bones that allow us to move our body. RMS is a malignant tumour, meaning it's cancerous and has the potential to spread (metastasize) to other parts of the body.

While it can occur at any age, RMS is most commonly diagnosed in children under the age of 6. It's also more frequent in boys than girls. RMS can occur anywhere in the body, including:

• Head and Neck: Approximately 40% of all rhabdomyosarcoma cases in children occur in the head and neck region. This includes parameningeal sites (near the membranes covering the brain), accounting for 25% of cases, as well as the eye socket (8% of cases) and other head and neck locations (7% of cases).
• Urinary or Reproductive Organs: Around 30% of cases of RMS affect the urinary or reproductive organs.
• Arm or Leg: Approximately 15% of cases of RMS occur in the arms or legs.
• Others: The remaining 15% of cases of RMS occur in various other locations, including the trunk (torso), intrathoracic (inside the lung and/or chest), biliary tract, retroperitoneal (the area in the back of the abdomen), pelvic, and perineal sites (close to the anus, vagina, and urinary structures).

There are three main subtypes of RMS, each with slightly different characteristics and prognoses (outlook):

• Embryonal Rhabdomyosarcoma (ERMS): This is the most common subtype, accounting for a significant percentage of Rhabdomyosarcoma cases. It's typically found in the head and neck area, the genitourinary system (bladder, genitals), or the limbs.
• Alveolar Rhabdomyosarcoma: This subtype is known for its translocation (rearrangement) of specific chromosomes. It often affects the extremities (arms and legs) and trunk (chest, abdomen, back).
• Pleomorphic Rhabdomyosarcoma: This is a rarer and more aggressive form of RMS, usually diagnosed in adults. It can develop anywhere in the body but is most commonly found in the limbs.

The exact cause of Rhabdomyosarcoma is unknown in most cases. However, researchers believe it starts with a mutation in the DNA of immature muscle cells. These mutations cause the cells to grow and divide uncontrollably, forming tumours.

In most cases of rhabdomyosarcoma, there is no clear risk factor. However, children with certain inherited conditions have a higher risk of developing this type of cancer. These conditions are Li-Fraumeni syndrome, Beckwith-Wiedemann syndrome, neurofibromatosis, Costello syndrome, and cardio-facio-cutaneous syndrome.

Individuals who have concerns about their child's health or a family history of rhabdomyosarcoma (RMS), should consult a doctor for personalised advice.

Rhabdomyosarcoma (RMS) symptoms can vary depending on the location and size of the tumour. Common symptoms may include:

• Swelling or lump: A noticeable lump or swelling that may be painless or tender to the touch, particularly in the arms, legs, head, or neck.
• Pain: Persistent or increasing pain in the affected area, especially if accompanied by swelling or restricted movement.
• Unexplained bleeding: Bleeding from the nose, throat, or other bodily orifices without an apparent cause.
• Changes in bowel or bladder habits: Difficulty urinating or having bowel movements, or changes in the frequency or urgency of these functions.
• Difficulty breathing or swallowing: Wheezing, shortness of breath, or difficulty swallowing may occur if the tumour is pressing on the airways or swallowing passages.
• Protrusion of the eye: In cases where RMS affects the eye socket, the affected eye may appear to protrude or bulge outwards.
• Vision changes: Blurred vision, double vision, or other vision changes may occur if the tumour affects the eye or optic nerve.

Diagnosing rhabdomyosarcoma typically involves a combination of medical history review, physical examination, imaging tests, and tissue biopsy. The diagnostic process may include:

• Medical history and physical examination: The healthcare provider will inquire about symptoms and perform a physical examination to assess for any abnormalities or signs of a tumour.
• Imaging tests: Imaging studies such as X-rays, ultrasound, MRI (magnetic resonance imaging), , PET (positron emission tomography) scan, or CT (computed tomography) scans may be ordered to visualise the tumour and determine its location, size, and extent of spread.
• Biopsy: A biopsy is the definitive test for diagnosing rhabdomyosarcoma. During a biopsy, a small sample of tissue is removed from the tumour and examined under a microscope by a pathologist to confirm the presence of cancerous cells and determine the tumour's specific type and grade.
• Additional tests: Depending on the tumour's location and extent, additional tests such as bone marrow aspiration or lumbar puncture (spinal tap) may be performed to assess for spread to other parts of the body.

Early detection and diagnosis of rhabdomyosarcoma are crucial for initiating prompt treatment and improving outcomes. If individuals experience any concerning symptoms or have risk factors for RMS, they should consult a healthcare provider for evaluation and appropriate management.

Treatment for rhabdomyosarcoma typically involves a combination of therapies, including surgery, chemotherapy, and radiation therapy. The specific treatment plan depends on factors such as the location and extent of the tumour, as well as the age and overall health of the patient.

Surgery

Surgical removal of the tumour is often the first step in treatment, especially if the tumour is localised and can be safely removed without causing significant damage to surrounding tissues. In some cases, however, surgery may not be possible due to the location or size of the tumour.

Chemotherapy

Chemotherapy involves the use of powerful drugs to kill cancer cells or stop them from growing. It is often used before or after surgery to shrink the tumour or to destroy any remaining cancer cells. Chemotherapy may also be used in cases where surgery is not an option or to treat cancer that has spread to other parts of the body.

Radiation therapy

Radiation therapy uses high-energy rays to kill cancer cells. It is often used in combination with surgery and/or chemotherapy to treat rhabdomyosarcoma, especially if the tumour is inoperable or has a high risk of recurrence. Radiation therapy may also be used as the primary treatment for tumours that cannot be surgically removed.

Targeted therapy

In some cases, targeted therapy drugs may be used to specifically target the genetic mutations or other molecular changes that are driving the growth of the cancer cells. These drugs may be used alone or in combination with other treatments.

Stem cell transplant

In rare cases, a stem cell transplant may be used to replace bone marrow or blood-forming cells that have been damaged or destroyed by high doses of chemotherapy or radiation therapy.

Treatment for rhabdomyosarcoma is often complex and may require a multidisciplinary approach involving oncologists, surgeons, radiation oncologists, and other healthcare professionals. The goal of treatment is to cure the cancer if possible, or to control its growth and manage symptoms if a cure is not achievable. It's essential for patients to work closely with their healthcare team to develop a treatment plan that is tailored to their individual needs and preferences.

Rhabdomyosarcoma complications can stem from the tumour itself or as side effects from treatment. Here's a breakdown of both:

Complications from the tumour

• Metastasis: Rhabdomyosarcoma can spread (metastasize) to other parts of the body, most commonly the lungs, bone marrow, and bones.
• Organ dysfunction: Depending on the tumour location, it can press on or grow into organs, affecting their function.

Complications from treatment

• Surgery: These can include infection, bleeding, problems with anaesthesia, and damage to nearby nerves or tissues.
• Chemotherapy: Common side effects include fatigue, nausea and vomiting, hair loss, mouth sores, and increased risk of infection. Less frequent complications include hearing loss, heart problems, and fertility issues.
• Radiation therapy: Fatigue, skin irritation, diarrhoea, hair loss (in the treated area) are common. Long-term effects like growth problems and an increased risk of developing other cancers are also possibilities.

How common is rhabdomyosarcoma?

Rhabdomyosarcoma is relatively rare, accounting for about 3-5% of childhood cancers and less than 1% of adult cancers. It is the most common soft tissue sarcoma in children, with around 350 new cases diagnosed in the United States each year.

Is rhabdomyosarcoma more common in certain age groups?

Yes, rhabdomyosarcoma primarily affects children and adolescents, with about half of cases diagnosed in children under the age of 10. It is rare in adults but can occur at any age.

What are the survival rates for rhabdomyosarcoma?

The survival rates for rhabdomyosarcoma vary depending on factors such as the stage of the disease, the location of the tumour, and the age of the patient. Overall, the 5-year survival rate for children with rhabdomyosarcoma is around 70-75%.

Can rhabdomyosarcoma recur after treatment?

Yes, rhabdomyosarcoma can recur after treatment, even if the initial treatment was successful in removing or shrinking the tumour. Recurrence may occur locally, in the same area as the original tumour, or it may spread to other parts of the body.

What supportive care measures are available for patients with rhabdomyosarcoma?

Supportive care measures for patients with rhabdomyosarcoma may include pain management, nutritional support, physical therapy, and psychological support to help cope with the emotional and practical challenges of treatment.

Are there any complementary or alternative therapies that may help manage symptoms or improve quality of life during treatment?

Some patients may find relief from symptoms or improved quality of life with complementary therapies such as acupuncture, massage therapy, or relaxation techniques. However, it's essential to discuss these options with healthcare providers to ensure they are safe and appropriate.

How does rhabdomyosarcoma affect children's development and education?

Rhabdomyosarcoma and its treatment can sometimes impact children's development and education, especially if treatment causes long-term physical disabilities or cognitive effects. Schools and educational support services can help accommodate the needs of children with cancer.

Are there any long-term effects or late effects of treatment for rhabdomyosarcoma?

Yes, some survivors of rhabdomyosarcoma may experience long-term effects or late effects of treatment, such as organ damage, cognitive impairment, fertility issues, or an increased risk of secondary cancers.

What resources are available for emotional support and coping with a diagnosis of rhabdomyosarcoma?

There are various resources available for emotional support, including support groups, counselling services, online communities, and nonprofit organisations dedicated to supporting individuals with cancer and their families.

Can participation in clinical trials be beneficial for patients with rhabdomyosarcoma?

Participation in clinical trials can provide access to cutting-edge treatments and help advance medical knowledge about rhabdomyosarcoma. Patients should discuss clinical trial options with their healthcare team to determine if they are suitable candidates.

How does rhabdomyosarcoma impact fertility in survivors?

Some cancer treatments, such as chemotherapy and radiation therapy, can affect fertility in both males and females. It's important for patients to discuss fertility preservation options with their healthcare team before starting treatment if fertility is a concern.

What should patients and caregivers know about managing pain and discomfort associated with rhabdomyosarcoma?

Patients and caregivers should work closely with healthcare providers to develop a pain management plan that addresses both acute and chronic pain associated with rhabdomyosarcoma. This may involve medications, physical therapy, relaxation techniques, and other interventions.

How does rhabdomyosarcoma affect family dynamics and relationships?

A diagnosis of rhabdomyosarcoma can place significant stress on families, affecting relationships, routines, and roles within the family unit. Open communication, support, and access to resources can help families navigate these challenges.

What are some common misconceptions about rhabdomyosarcoma that patients and families should be aware of?

One common misconception is that rhabdomyosarcoma only affects muscles. While it does typically arise in muscle tissue, it can occur in other soft tissues as well. Additionally, it's important for patients and families to understand that rhabdomyosarcoma is treatable, and many patients go on to live healthy lives after treatment.

Reviewed By Dr. Pawan Gupta - Senior Director - Surgical Oncology (Head & Neck) on 02 Sept 2024.