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Rhabdomyosarcoma - Cause, Types, Symptoms, Diagnosis, Complications and Treatment

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Rhabdomyosarcoma is the cancer of the tissues that form the skeletal muscles. Read the article below to know more.

Written by

Dr. Preetha. J

Medically reviewed by

Dr. Sugreev Singh

Published At April 25, 2022
Reviewed AtMarch 8, 2023

What Is Rhabdomyosarcoma?

Rhabdomyosarcoma is a rare cancer in the body's soft tissues, usually the striated muscles (skeletal muscles). The skeletal muscles are the muscles that are used to move the parts of our body. Rhabdomyosarcoma can occur at any age, but it commonly affects children. It can occur anywhere in the body but is more widely seen in the head and neck region, arms, legs, the urinary system like the bladder, and reproductive systems like the uterus, vagina, and testes.

What Is the Cause for Rhabdomyosarcoma?

Rhabdomyosarcoma develops from the mesenchymal cells that have failed to differentiate into myocytes of skeletal muscle completely. Cells of the tumor are recognized as rhabdomyoblasts. The exact cause of rhabdomyosarcoma is not known, and it is not easy to diagnose. It is also associated with specific genetic mutations and chromosomal abnormalities.

The inherited conditions which increase the risk of acquiring rhabdomyosarcoma are:

What are the Types of Rhabdomyosarcoma?

There are four types of rhabdomyosarcoma which include:

1. Embryonal: It is the most common histological variant that comprises 60 % to 70 % of cases in children. It is most commonly seen in children up to four years of age. These tumors are usually seen in the head, neck, and genitourinary tract.

2. Alveolar: It is the second most common type, and it comprises 20 to 25 % of rhabdomyosarcoma-related cases in children. It is commonly seen in young adults and teenagers. They usually occur in the trunk, extremities, and peritoneum. It is more aggressive than embryonal rhabdomyosarcoma.

3. Pleomorphic: It is also called anaplastic rhabdomyosarcoma. It is usually seen in adults and rarely in children.

4. Spindle Cell or Sclerosing: It is the cancer of the smooth muscle tissue. It is most commonly seen in the paratesticular regions. The prognosis is excellent for this type of rhabdomyosarcoma.

What Are the Signs and Symptoms of Rhabdomyosarcoma?

The symptoms usually depend upon the location of the tumor they include:

  • Presence of a painless lump.

  • Bulging or swelling of the eyes.

  • Hematuria.

  • Abdominal pain.

  • Bleeding in the nose, throat, rectum, or vagina if the tumor is around these organs.

  • Numbness, tingling, and pain in case of nerve compression.

  • Congestion and difficulty in swallowing if the cancer is present near the throat and nose.

  • The vaginal tumor will visibly protrude.

  • Headache.

  • Blood in the urine or difficulty in urinating due to urinary tract obstruction.

  • Difficulty in bowel movements.

  • Cranial nerve dysfunction.

  • Sinusitis.

  • Ear discharge.

  • Facial pain.

How to Diagnose Rhabdomyosarcoma?

1. Physical examination:

Rhabdomyosarcoma usually begins with a physical examination to understand the symptoms of the patient. Based on the findings in the examination, the other tests and procedures are performed. The doctor can recommend one or more imaging tests.

2. Imaging Tests:

  • CT (computed tomography) scan - This is a combination of x-ray and computer technology that produces images of the body sections such as fats, bones, organs, and muscles.

  • MRI (magnetic resonance imaging) - It will provide detailed images of the organs and the structures.

  • X-ray - It produces images of the bones, organs, and internal tissues onto the x-ray film.

  • Positron Emission Tomography (PET) - Radiotracers are used to perform imaging tests to assess the tissue and organ functions.

  • Bone Scan - X-rays of the bone are taken after the dye injection, which will locate bone tumors and abnormalities.

  • Ultrasound - High-frequency sound waves are used to produce images of the blood vessels, tissues, and organs.

3. Biopsy: A sample of tissue is removed from the tumor to be tested under a microscope.

  • Needle Biopsy - This is one type of biopsy used to remove tissue and test for rhabdomyosarcoma. In this procedure, the doctor inserts the needle into the skin and guides it into the tumor. This thin needle will remove small pieces of tissues from the tumor.

  • Surgical Biopsy - In this procedure, the doctor will make an incision in the skin and will remove either the entire tumor (excisional biopsy) or the small portion of the tumor (incisional biopsy).

How to Treat Rhabdomyosarcoma?

The main goal of treatment is to remove the cancer cells and maintain the function and minimize the disability. The treatment depends on the location and size of the tumor, the patient's age, and the patient's capability to tolerate the therapies, many of which can have severe side effects. Treatment typically involves some combination of surgery, chemotherapy, and radiation therapy. The surgeon eliminates as much of the tumor as possible. The doctor will try to reduce the damage or disfigurement when doing the procedure, but that can be not easy.

1. Surgery: The main goal of surgery is to eliminate cancer cells. But it is not possible to do that if the rhabdomyosarcoma has developed near or around organs or other vital structures. When the doctor cannot eradicate cancer with surgery, they may remove as much as possible and then use other methods, such as chemotherapy and radiation therapy, to kill any cancer cells that have been left.

2. Chemotherapy: Chemotherapy uses potent drugs to kill cancer cells. The treatment involves the introduction of a combination of drugs, which are commonly administered through a vein. Types of drugs and how often it is given vary depending on the particular situation. Chemotherapy is usually done after surgery or radiation therapy to kill any cancer cells that remain after those procedures. It is also used to contract or shrink a tumor to make surgery or radiation therapy more effective.

3. Radiation therapy: Radiation therapy employs high-energy beams, such as X-rays and protons, to kill cancer cells. It is done with a device that moves around you as it directs the radiation at precise points on the body. Radiation therapy is recommended after surgery to kill any cancer cells that are left. It can also be used alternatively for surgery when the rhabdomyosarcoma is located in an area where surgery is impossible because of nearby organs or other vital structures. Brachytherapy, or placing small, radioactive seeds directly inside the tumor or cancer site, is often indicated in children with tumors of delicate areas such as the testicles, vagina, or bladder. This decreases scattering and the development of late toxicity following dosing.

4. Immunotherapy:

Immunotherapy is a more modern treatment modality. This method involves selecting and preparing the patient's immune system to target the cancer cells. We can accomplish this by administering small molecules created to pull immune cells towards the tumors, take immune cells drawn from the patient, and train them to attack tumors through remembrance with tumor antigens or other innovative methods.

What Are the Complications of Rhabdomyosarcoma?

The complications of rhabdomyosarcoma may include:

  • Bladder damage.

  • Infertility caused by chemotherapeutic agents.

  • Secondary cancer may occur after treatment.

  • Rhabdomyosarcoma can spread to other areas from where it started, making the treatment and the recovery very difficult.

  • It can spread to the organs like lymph nodes, lungs, and bones.

  • Side effects can be caused due to the aggressive treatment given to control rhabdomyosarcoma symptoms in long and short-term therapy.

Conclusion

Many cancers in adults can be prevented by lifestyle changes like quitting smoking, using tobacco, and maintaining a healthy weight. Still, there are no known lifestyle changes to avoid cancers in children. The known cause of rhabdomyosarcoma is genetics, age, and gender, which cannot be changed; therefore, there are no proven environmental or lifestyle-related causes for rhabdomyosarcoma. You can get more information regarding this disease through online consultation also.

Frequently Asked Questions

1.

Is Rhabdomyosarcoma Curable?

Rhabdomyosarcoma is rare cancer that originates from skeletal muscle cells. Rhabdomyosarcoma treatment depends on the cancer's stage, size, and location. It is curable if the cancer is confined to the original site. However, if the tumor cells have spread to distant sites and organs, multiple rounds of treatment might be required. However, the treatment might not help eliminate all the cancer cells. High-risk cases present with the continuous growth of the tumor even after the treatment. It spreads and recurs in the same part or different parts of the body.

2.

Does Rhabdomyosarcoma Occur in Adults?

Rhabdomyosarcoma is mostly cancer that occurs in childhood. It is a soft tissue cancer and originates from skeletal muscles. This cancer is rare and usually occurs in children or teenagers. However, rhabdomyoma cases have also been reported in adults. In addition, rhabdomyosarcoma in adults is fast-growing compared to childhood cases. These tumors can originate from different parts of the body, which can be challenging to treat. As a result, adult rhabdomyosarcomas have a poor prognosis.

3.

How Fast Does Rhabdomyosarcoma Grow?

Rhabdomyosarcoma is aggressive cancer commonly affecting young children. Its rate of growth depends on the subtype of the tumor. Several types of rhabdomyosarcomas have been identified; amongst them, the embryonal and the alveolar types are fast-growing. Although the embryonal type is aggressive, cancer responds well to the treatment. In contrast, the alveolar rhabdomyosarcoma is hard to treat because of its fast growth and aggressiveness.

4.

Do Children Inherit Rhabdomyosarcoma?

Children do not directly inherit rhabdomyosarcoma from their parents. However, if the patient hails from a family with a history of cancer, the risk of developing rhabdomyosarcoma increases. Therefore, children with a blood relative (parent or sibling) with a history of cancer are more likely to develop cancer in general. But this does not mean they will certainly develop cancer. Interestingly, most rhabdomyosarcomas cases are sporadic and do not have a family history of cancer.
Certain syndromes that are inherited from parents increase the risk of rhabdomyosarcoma. These include:
- Neurofibromatosis type 1.
- Noonan syndrome.
- Li-Fraumeni syndrome.
- Beckwith-Wiedemann syndrome.
- Costello syndrome.

5.

What Is the First-Line Treatment for Rhabdomyosarcoma?

The treatment of rhabdomyosarcoma involves surgery, chemotherapy, radiotherapy, or their combination. Choice of treatment depends on the stage, type, location, and size of the tumor. Staging cancer helps in determining the appropriate treatment of choice. The child’s overall health and age are also considered. The general treatment approach includes:
1. Surgery.
2. Radiation therapy.
3. Chemotherapy.
4. Targeted therapy.
5. Immunotherapy.

6.

Is Surgery Alone Sufficient for Curing Rhabdomyosarcoma?

Local excisional surgery is often performed to treat rhabdomyosarcoma. Along with the tumor, surrounding tissues and lymph nodes are removed if they are involved. However, if cancer has spread to different sites, surgery alone would not be sufficient. Other adjuvant methods such as radiotherapy and chemotherapy might be required. Additionally, another surgery might be done depending on the response to other treatment modalities. Therefore, surgery alone is not sufficient to cure rhabdomyosarcoma.

7.

How Long Does It Take to Cure Rhabdomyosarcoma With Chemotherapy?

Chemotherapy involves the use of medications that target and kill cancer cells by interfering with their cell cycle. It is an adjuvant therapy that can be given before or after the surgery. Multiple chemotherapeutic medications are combined to treat rhabdomyosarcoma. Chemotherapy is given in cycles, and each cycle lasts for one to two days. Following this, a recovery time is given. The patient undergoes chemotherapy once a week during the initial months. The duration of Chemotherapy can range from six months to one year.

8.

Does Rhabdomyosarcoma Recur?

Although rhabdomyosarcoma is curable, there are chances of recurrence. Most tumors develop again within the first few years of treatment. The recurrence can also happen years after the treatment. After the initial treatment, long-term follow-up and screening are necessary to ensure there is no recurrence. If the tumor recurs, it can either develop at the original or different sites. 90 % of patients with no metastasis show complete remission of the condition.

9.

What Is the Survival Rate of Rhabdomyosarcoma?

After the treatment, the prognosis and survival rate of rhabdomyosarcoma depends on the tumor's stage, type, and location. Younger children respond well to the treatment and have a good prognosis. The five-year survival rate gives a rough idea of what percent of patients survive at least five years after the diagnosis.
- The five-year survival rate is 70 % for children under the age of 15 years.
- The five-year survival rate is 50 % for patients 15 to 19 years of age.
- The five-year survival rate of low-risk rhabdomyosarcoma ranges from 50
% to 70 %.
- The five-year survival rate of high-risk rhabdomyosarcoma ranges from 20 % to 30 %.

10.

What Are the Effects of Rhabdomyosarcoma on the Body?

Rhabdomyosarcoma presents with various symptoms depending on its location. However, the general effects of the tumor include the following:
Presence of mass or a lump at the affected site.
- Swelling in the eyes.
- Blood in the urine.
- Pain in the abdomen.
- Eyes bulge or protrude.
- Bleeding from vagina, nose, or anus.
- Difficulty while urinating or passing stools.
- General weakness, fatigue, and malaise.
Dr. Sugreev Singh
Dr. Sugreev Singh

Internal Medicine

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