Rhabdomyosarcoma

A cancer of developing muscle cells, mainly in children

Quick Facts

  • Type: Soft tissue sarcoma
  • Most common in: Children and teenagers
  • Common sites: Head and neck, urinary/reproductive organs, limbs
  • Treatment: Combination of surgery, chemotherapy, radiation

Overview

Rhabdomyosarcoma is a cancer that develops from immature cells that would normally grow into skeletal muscle, the muscle that moves the body. It is a type of soft tissue sarcoma and is the most common soft tissue sarcoma in children, though it can also occur in teenagers and, less often, adults.

Because these muscle-forming cells are found throughout the body, rhabdomyosarcoma can appear in many locations, including the head and neck, the area around the eye, the bladder and reproductive organs, and the arms and legs. Treatment usually combines several approaches and is delivered by a specialized children's cancer team. Many children with rhabdomyosarcoma can be treated successfully, especially when the cancer is found early and is in a favorable location.

Symptoms

Symptoms depend on where the tumor grows. The first sign is often a lump or swelling, or problems caused by the tumor pressing on nearby structures.

  • A firm lump or swelling that may or may not be painful
  • Around the eye: a bulging eye or drooping eyelid
  • In the head or neck: a mass, nasal blockage, or discharge
  • In the urinary or reproductive area: trouble passing urine, blood in the urine, or a mass
  • In a limb: a growing lump, sometimes with pain or weakness
  • General signs such as tiredness or weight loss if the cancer is advanced

Any unexplained lump or persistent swelling in a child should be evaluated by a doctor.

Causes

Rhabdomyosarcoma develops when developing muscle cells acquire gene changes that make them grow uncontrollably. The exact cause in any individual child is usually not known.

  • Gene changes in the tumor cells: These drive the cancer and help classify its subtype.
  • Inherited syndromes: A small number of cases are linked to genetic conditions such as Li-Fraumeni syndrome, neurofibromatosis type 1, and certain others.

Rhabdomyosarcoma is not contagious, and in most children no specific cause can be identified. It is not caused by anything the parents did.

Risk Factors

  • Young age, as most cases occur in children
  • Certain inherited conditions, including Li-Fraumeni syndrome and neurofibromatosis type 1
  • A family history of childhood cancer in some cases

Most children with rhabdomyosarcoma have no known risk factor.

Diagnosis

Diagnosis requires imaging and a tissue sample.

  • Imaging: MRI or CT scans show the tumor's size and location.
  • Biopsy: A tissue sample is examined to confirm rhabdomyosarcoma and identify its subtype.
  • Staging tests: Additional scans and sometimes bone marrow tests to check whether the cancer has spread, which guides treatment.
  • Molecular testing: Genetic features of the tumor that help determine the subtype and outlook.

Treatment

Treatment almost always combines several approaches and is planned by a children's cancer team based on the tumor's location, subtype, and stage.

  • Chemotherapy: Given to nearly all patients to shrink the tumor and treat any spread.
  • Surgery: To remove the tumor when this can be done safely, sometimes after chemotherapy has shrunk it.
  • Radiation therapy: Used to destroy remaining cancer cells, particularly when surgery cannot fully remove the tumor.
  • Supportive care: To manage side effects and support the child and family through treatment.

The intensity and combination of treatments are tailored to the individual, and outcomes are often good, especially for early-stage tumors in favorable locations.

Prevention

Rhabdomyosarcoma cannot be prevented, because it arises from gene changes in developing cells. There is no lifestyle measure known to prevent it. For families with an inherited cancer syndrome, genetic counseling and recommended monitoring can help with early detection.

When to See a Doctor

See a doctor for any unexplained lump or persistent swelling in a child, a bulging eye, blood in the urine, or trouble passing urine. Seek prompt medical care for:

  • A lump that is growing or becoming painful
  • A bulging eye or drooping eyelid
  • Blood in the urine or difficulty urinating
  • Persistent, unexplained tiredness or weight loss

Frequently Asked Questions

What is rhabdomyosarcoma?

Rhabdomyosarcoma is a cancer that develops from immature cells that would normally form skeletal muscle. It is the most common soft tissue sarcoma in children and can appear in many parts of the body.

Where does rhabdomyosarcoma usually occur?

It most often arises in the head and neck (including around the eye), the bladder and reproductive organs, and the arms and legs, but it can occur almost anywhere because muscle-forming cells are found throughout the body.

Can rhabdomyosarcoma be cured?

Many children with rhabdomyosarcoma can be treated successfully, especially when it is found early and is in a favorable location. Treatment combines chemotherapy with surgery and radiation, planned by a specialized children's cancer team.

What causes rhabdomyosarcoma?

It results from gene changes in developing muscle cells, and in most children the cause is unknown. A small number of cases are linked to inherited conditions such as Li-Fraumeni syndrome or neurofibromatosis type 1. It is not contagious or caused by parents.

What symptoms should prompt evaluation?

Any unexplained lump or persistent swelling in a child, a bulging eye, blood in the urine, or difficulty passing urine should be checked by a doctor. Early evaluation supports better outcomes.

Medical Disclaimer: This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always consult a qualified healthcare provider with any questions about a medical condition.

References

  1. National Cancer Institute (NCI). Childhood Rhabdomyosarcoma Treatment.
  2. Mayo Clinic. Rhabdomyosarcoma.
  3. MedlinePlus, U.S. National Library of Medicine. Rhabdomyosarcoma.
  4. American Cancer Society. Rhabdomyosarcoma.