Rhabdomyosarcoma

Overview

Rhabdomyosarcoma (RMS) is a rare type of cancer that forms in soft tissue, specifically skeletal muscle tissue or sometimes hollow organs such as the bladder or uterus. It can occur at any age but is more common in children. The cancer can start in various parts of the body, including the head and neck area, urinary system, reproductive system, and arms and legs. Treatment typically involves a combination of surgery, chemotherapy, and radiation therapy. Although advancements have improved outcomes, lifelong monitoring for potential late effects of intense chemotherapy and radiation is necessary.

Understanding the disease

Symptoms

The symptoms of rhabdomyosarcoma depend on where the cancer is located. If the cancer is in the head or neck area, symptoms may include headache, bulging or swelling of the eyes, and bleeding in the nose, throat, or ears. If it is in the urinary or reproductive system, symptoms might include trouble urinating, blood in the urine, difficulty with bowel movements, and a mass or bleeding in the vagina or rectum. If the cancer is in the arms or legs, symptoms can include swelling or a lump in the affected area, pain, or sometimes no pain at all. It is not clear what causes rhabdomyosarcoma, but it begins when a cell develops changes in its DNA.

Risk Factors

Risk factors for developing rhabdomyosarcoma include:

  1. Family history of cancer, particularly if a blood relative, such as a parent or sibling, has had cancer at a young age.
  2. Genetic syndromes that increase the risk of cancer, such as neurofibromatosis 1, Noonan syndrome, Li-Fraumeni syndrome, Beckwith-Wiedemann syndrome, and Costello syndrome. It is important to note that most children with rhabdomyosarcoma have no family history of cancer.

Development

Rhabdomyosarcoma (RMS) develops when there are changes in the DNA of a cell, which instructs the cell to multiply quickly and continue living when healthy cells would normally die. This results in a mass (tumor) of abnormal cells that can invade and destroy healthy body tissue. RMS can arise in various parts of the body, such as the head and neck area, urinary system, reproductive system, arms, or legs. The specific location of the cancer determines the signs and symptoms that may be present, such as swelling or a lump in the arm or leg, pain in the affected area, or difficulty with bowel movements.

Assessment and Diagnosis

Triage

If you suspect rhabdomyosarcoma, it is important to consult a doctor as soon as possible. Early diagnosis and treatment can significantly improve the outcome and chances of recovery. You should see a doctor if you notice any unusual symptoms such as swelling or a lump in the arms or legs, pain in the affected area, difficulty with urination or bowel movements, headache, bulging or swelling of the eyes, bleeding in the nose, throat or ears, or any other concerning symptoms.

Diagnosis

To diagnose rhabdomyosarcoma, the process typically begins with a physical exam to understand the symptoms a patient or their child may be experiencing. Additional tests and procedures may be recommended based on the findings of the physical exam. These may include imaging tests such as X-ray, CT scan, MRI, PET scan, and bone scan. A biopsy procedure may also be performed to collect a sample of suspicious cells for laboratory testing. Types of biopsy procedures used to diagnose rhabdomyosarcoma include needle biopsy and surgical biopsy. It is important to seek the expertise of a team of specialists, including orthopedic surgeons, other surgeons, medical oncologists, radiation oncologists, and pathologists, to diagnose and treat rhabdomyosarcoma effectively. Clinical trials may also be an option to explore new treatment methods.

Management and Treatment

Complications

Complications of rhabdomyosarcoma and its treatment include:

  1. Cancer that spreads (metastasizes): Rhabdomyosarcoma can spread from where it started to other areas, making treatment and recovery more difficult. It most commonly spreads to the lungs, lymph nodes, and bones.
  2. Long-term treatment side effects: The aggressive treatments needed to control rhabdomyosarcoma can cause substantial side effects in both the short and long terms. Your health care team can help you manage the side effects that occur during treatment and provide you with a list of side effects to watch for in the years after treatment.

Home Remedies

It is important to consult with a healthcare professional for appropriate guidance and treatment options for rhabdomyosarcoma. Home remedies are not substitutes for medical care and should not be used as a substitute for professional medical advice, diagnosis, or treatment.

Treatment

Treatment for rhabdomyosarcoma typically involves a combination of surgery, chemotherapy, and radiation therapy. The specific treatment plan depends on the type of rhabdomyosarcoma, the location of the tumor, and whether the cancer has spread. Major advancements in treatment have significantly improved outcomes, but people who have had rhabdomyosarcoma need lifelong monitoring for potential late effects of intense chemotherapy and radiation.

Preparing for medical consultation

To prepare for an appointment for rhabdomyosarcoma, it is important to gather information about your symptoms and medical history. You should write down any symptoms you're experiencing, including those that may seem unrelated to the reason for the appointment. Additionally, make a list of all medications, vitamins, or supplements that you're taking. It's also a good idea to bring a family member or friend with you to the appointment for support and to help remember important details discussed during the appointment. Lastly, prepare a list of questions to ask the healthcare provider during your appointment, including questions about your diagnosis, treatment options, and potential side effects.