7 Key Symptoms of Rhabdomyosarcoma You Should Know

Rhabdomyosarcoma, commonly referred to as RMS disease, is a rare type of cancer that develops in soft tissues, particularly in skeletal muscle tissue. This aggressive malignancy primarily affects children and adolescents, though it can occur in adults as well. Understanding what is RMS disease and recognizing its symptoms early is crucial for timely diagnosis and better outcomes. Rhabdomyosarcoma can develop anywhere in the body, but most commonly appears in the head and neck region, urinary and reproductive organs, arms, and legs. The symptoms vary significantly depending on the tumor’s location and size.

This article explores the seven key symptoms of rhabdomyosarcoma that patients and caregivers should be aware of, helping you identify potential warning signs that warrant medical attention.

1. Visible or Palpable Mass or Lump

The most common and noticeable symptom of rhabdomyosarcoma is the presence of a lump or mass that can be seen or felt under the skin. This tumor mass is often the first sign that prompts medical evaluation.

Characteristics of the mass include:

• Usually painless in the early stages
• Can appear anywhere on the body, but commonly in the arms, legs, head, or neck
• May grow rapidly over weeks or months
• Typically firm to the touch
• May or may not be movable under the skin
• The overlying skin usually appears normal without discoloration initially

The size of the lump can vary considerably, from small nodules to large masses several centimeters in diameter. Parents often discover these lumps while bathing or dressing their children. It’s important to note that not all lumps are cancerous, but any persistent or growing mass should be evaluated by a healthcare professional promptly.

2. Swelling in Affected Areas

Swelling is another prominent symptom of rhabdomyosarcoma, which may occur with or without a visible lump. This swelling results from the tumor growth itself or from the body’s inflammatory response to the cancer.

Important aspects of RMS-related swelling:

• May develop gradually or appear suddenly
• Can affect the face, neck, extremities, or other body regions
• Often asymmetrical, affecting only one side of the body
• May be accompanied by a feeling of fullness or pressure
• Does not typically improve with rest or elevation
• May worsen over time as the tumor grows

When rhabdomyosarcoma occurs near joints, the swelling may be mistaken for sports injuries or arthritis. Orbital rhabdomyosarcoma can cause swelling around the eye, making it appear puffy or bulging. Swelling in the neck area might be confused with enlarged lymph nodes from common infections, which is why persistent swelling requires thorough medical investigation.

3. Eye Problems and Visual Disturbances

When rhabdomyosarcoma develops in or around the eye socket (orbital RMS), it produces distinctive eye-related symptoms. The orbit is one of the most common sites for this cancer in children, accounting for approximately 10% of cases.

Eye symptoms associated with orbital rhabdomyosarcoma include:

• Bulging of one eye (proptosis)
• Swelling of the eyelid
• Drooping eyelid (ptosis)
• Vision changes or blurred vision
• Double vision (diplopia)
• Eye pain or discomfort
• Redness around the eye
• Limited eye movement
• Tearing or discharge

These symptoms typically develop rapidly, often over just a few weeks. Parents might notice that their child’s eye appears to be “popping out” or that one eye looks different from the other. Because these symptoms can progress quickly, any sudden changes in eye appearance or vision should be evaluated immediately by a healthcare provider.

4. Urinary and Bowel Problems

Rhabdomyosarcoma tumors located in the pelvic region, bladder, prostate, or vagina can cause various urinary and bowel symptoms. This presentation is particularly common in genitourinary rhabdomyosarcoma, which accounts for about 20% of all RMS cases.

Common urinary and bowel symptoms include:

• Blood in the urine (hematuria)
• Difficulty urinating or changes in urinary stream
• Frequent urination or urgency
• Urinary retention or inability to empty the bladder completely
• Constipation or difficulty with bowel movements
• Blood in stool
• Abdominal or pelvic pain
• A mass protruding from the vagina or rectum

In young girls, a grape-like mass may protrude from the vagina, which is characteristic of a specific subtype called botryoid rhabdomyosarcoma. Boys may experience difficulty urinating if the tumor affects the prostate or bladder neck. These symptoms can be mistaken for urinary tract infections or constipation, but their persistence or severity should prompt further investigation.

5. Nasal and Ear Symptoms

Head and neck rhabdomyosarcoma, which represents about 40% of all RMS cases, frequently causes symptoms related to the nose, sinuses, and ears. These tumors can develop in the nasal cavity, paranasal sinuses, nasopharynx, or middle ear.

Nasal and ear-related symptoms include:

• Chronic nasal congestion or stuffiness
• Nosebleeds (epistaxis) that may be frequent or severe
• Nasal discharge, sometimes bloody
• Facial swelling or asymmetry
• Ear pain or fullness
• Hearing loss
• Chronic ear drainage
• A mass visible in the nose or throat
• Difficulty breathing through the nose
• Changes in voice or nasal speech

These symptoms are often initially attributed to common conditions like allergies, sinusitis, or ear infections. However, when symptoms persist despite treatment or are associated with bleeding and facial swelling, rhabdomyosarcoma should be considered. The presence of a unilateral mass in the nasal passage or a polyp-like growth that bleeds easily is particularly concerning.

6. Pain and Discomfort

While early-stage rhabdomyosarcoma may be painless, pain often develops as the tumor grows and presses on surrounding tissues, nerves, or organs. The nature and location of pain vary depending on where the tumor is situated.

Pain characteristics in rhabdomyosarcoma:

• May start as mild discomfort and progressively worsen
• Can be localized to the tumor site or radiate to other areas
• May be constant or intermittent
• Often described as aching, throbbing, or pressure-like
• Might worsen with movement or activity if affecting limbs
• Can interfere with sleep or daily activities
• May be accompanied by tenderness to touch

Bone pain can occur if the tumor invades adjacent bone structures or if the cancer has metastasized to bones. Headaches may develop with tumors in the head and neck region, especially if they obstruct normal drainage pathways or increase pressure. Abdominal or pelvic pain suggests involvement of internal organs. Unlike typical growing pains in children, pain from rhabdomyosarcoma tends to be persistent, progressive, and localized to a specific area.

7. Systemic Symptoms

As rhabdomyosarcoma progresses or spreads, patients may experience general systemic symptoms that reflect the body’s response to cancer. These symptoms are less specific but indicate that the disease may be more advanced.

Common systemic symptoms include:

• Unexplained weight loss
• Persistent fatigue or weakness
• Loss of appetite
• Fever without obvious infection
• Night sweats
• General feeling of being unwell (malaise)
• Paleness (pallor) suggesting anemia
• Decreased activity level or reduced interest in play (in children)

These constitutional symptoms typically develop when the cancer is more extensive or has spread to other parts of the body. Fatigue may result from anemia, which can occur if the cancer affects bone marrow or causes chronic bleeding. Weight loss and decreased appetite often reflect the metabolic demands of the growing tumor and the body’s inflammatory response to cancer. While these symptoms are non-specific and can occur with many conditions, their presence alongside any of the more specific symptoms mentioned above warrants comprehensive medical evaluation.

Main Causes of Rhabdomyosarcoma

The exact causes of rhabdomyosarcoma remain largely unknown, but researchers have identified several factors that may contribute to its development:

Genetic Factors: Certain inherited genetic conditions increase the risk of developing RMS disease, including Li-Fraumeni syndrome, neurofibromatosis type 1, Beckwith-Wiedemann syndrome, Costello syndrome, and Noonan syndrome. These conditions involve mutations in specific genes that normally help control cell growth.

Genetic Mutations: Most cases of rhabdomyosarcoma occur due to acquired (not inherited) genetic changes in muscle cells during a person’s lifetime. These mutations cause normal muscle precursor cells to develop into cancer cells. Specific chromosomal translocations have been identified in different RMS subtypes.

Age Factor: Rhabdomyosarcoma shows two peak age ranges: early childhood (ages 2-6 years) and adolescence (ages 15-19 years), suggesting that developmental factors may play a role.

Developmental Origins: RMS is thought to arise from primitive muscle cells that fail to mature properly during fetal development or early childhood.

Environmental Factors: While no definitive environmental causes have been established, some studies have explored potential links to parental exposure to certain chemicals, X-rays during pregnancy, or maternal drug use, though evidence remains inconclusive.

It’s important to note that in most cases, rhabdomyosarcoma develops in children with no known risk factors, and having a risk factor does not mean a person will definitely develop the disease.

Prevention

Unfortunately, there are no known ways to prevent most cases of rhabdomyosarcoma because the disease typically occurs due to random genetic mutations that cannot be predicted or prevented. However, some strategies may help with early detection and risk management:

Genetic Counseling: Families with a history of genetic syndromes associated with increased RMS risk (such as Li-Fraumeni syndrome or neurofibromatosis) should consider genetic counseling. This can help identify at-risk family members who may benefit from enhanced surveillance.

Regular Medical Check-ups: Children with known genetic predisposition syndromes should have regular medical examinations to monitor for early signs of cancer development.

Awareness of Symptoms: Parents and caregivers should be familiar with potential warning signs and seek prompt medical attention for any unusual lumps, persistent swelling, or unexplained symptoms in children.

Prenatal Care: Maintaining good prenatal care and avoiding unnecessary exposure to radiation, certain chemicals, and harmful substances during pregnancy may contribute to overall fetal health, though direct links to RMS prevention have not been established.

Since prevention is generally not possible for rhabdomyosarcoma, emphasis should be placed on awareness, early detection, and prompt medical evaluation of any concerning symptoms.

Frequently Asked Questions

What is RMS disease?

RMS disease refers to rhabdomyosarcoma, a rare type of cancer that develops in soft tissues, particularly skeletal muscle tissue. It primarily affects children and adolescents and can occur anywhere in the body, most commonly in the head and neck region, genitourinary tract, and extremities.

How common is rhabdomyosarcoma?

Rhabdomyosarcoma is rare, accounting for about 3% of childhood cancers. Approximately 400-500 new cases are diagnosed in the United States each year, with about half occurring in children under 10 years old. It is the most common soft tissue sarcoma in children.

Can adults get rhabdomyosarcoma?

Yes, although rhabdomyosarcoma predominantly affects children, adults can develop this cancer. Adult RMS is extremely rare and often has different characteristics and prognosis compared to childhood cases. It tends to occur in older adults and may have a more aggressive course.

Is rhabdomyosarcoma always painful?

No, rhabdomyosarcoma is often painless in its early stages. Many patients initially notice a painless lump or swelling. Pain typically develops later as the tumor grows and presses on surrounding structures, nerves, or organs.

How quickly does rhabdomyosarcoma grow?

Rhabdomyosarcoma is generally a fast-growing cancer. Tumors can develop and enlarge rapidly over weeks to months. The rapid growth rate is one reason why prompt evaluation of any suspicious lumps or symptoms is crucial.

What are the survival rates for rhabdomyosarcoma?

Survival rates vary significantly depending on multiple factors including tumor location, size, stage at diagnosis, patient age, and specific subtype. Generally, localized RMS that has not spread has better outcomes than metastatic disease. Early detection and treatment significantly improve prognosis.

Can rhabdomyosarcoma spread to other parts of the body?

Yes, rhabdomyosarcoma can metastasize (spread) to other parts of the body, most commonly to the lungs, bone marrow, bones, and lymph nodes. About 15-20% of patients have metastatic disease at the time of diagnosis. The presence of metastasis significantly affects treatment approaches and outcomes.

How is rhabdomyosarcoma diagnosed?

Diagnosis typically involves physical examination, imaging studies (MRI, CT scans, PET scans), and biopsy of the suspicious tissue. The biopsy allows pathologists to examine the cells under a microscope and perform special tests to confirm rhabdomyosarcoma and determine its specific subtype.

Are there different types of rhabdomyosarcoma?

Yes, there are several histological subtypes of rhabdomyosarcoma. The two main types are embryonal rhabdomyosarcoma (more common in younger children, typically has better prognosis) and alveolar rhabdomyosarcoma (more common in adolescents and young adults, often more aggressive). Other less common subtypes include pleomorphic, spindle cell, and botryoid variants.

Should I see a doctor if my child has a lump?

Yes, any new, persistent, or growing lump in a child should be evaluated by a healthcare provider. While most lumps in children are benign (non-cancerous), it’s important to have them examined to rule out serious conditions like rhabdomyosarcoma. Seek medical attention promptly, especially if the lump is growing, painless but firm, or accompanied by other symptoms.

References:

• American Cancer Society – Rhabdomyosarcoma
• National Cancer Institute – Rhabdomyosarcoma Treatment
• Mayo Clinic – Rhabdomyosarcoma
• Boston Children’s Hospital – Rhabdomyosarcoma
• St. Jude Children’s Research Hospital – Rhabdomyosarcoma