Can sarcoma be genetic?

What is sarcoma? causes and treatments

Sarcoma is a rare type of cancer that affects various parts of the body, including bones and soft tissues that connect body parts such as muscles, tendons, fat, and blood vessels (also called connective tissues). Sarcoma accounts for 1% of all cancers in adults, while it represents 15%-20% of all cancers in children, making it the most common type of cancer in children.


Sarcoma can be caused by a variety of factors, the most common factor is the presence of certain genetic syndromes that increase the likelihood of developing it. Sarcoma treatment differs depending on the tumor's location and size.

In this article, we will learn more about sarcoma, its causes, symptoms, and types, as well as how genetic testing can help detect it early in order to prevent or change the treatment plan for people with sarcoma.

What is sarcoma?

Sarcoma is a type of cancerous tumor that affects various parts of the body, most notably the bones and soft tissues that connect different parts of the body, such as;

  • nerves
  • Muscle tendons and blood vessels
  • Tissue that connects bone and cartilage
  • Chest, shoulders, arms, wrist, and abdomen

However, one of the most common sites for sarcoma cancer is the legs, feet, and ankles.

The incidence of bone cancer, or sarcoma, is only 1% of all cancers that affect adults, but 15%-20% of all cancers that affect children.

What are the causes of sarcoma?

Sarcoma is caused by a number of factors, most notably are:

1. Genetic mutations

Genetic mutations are the most common causes of sarcoma cancer, At least 1 out of every 14 patients developing the disease due to genetic mutations, the most common of These mutations found in the APC gene, RB1 gene, TP53 gene, BLM gene, and others that lead to genetic syndromes increasing the risk of developing cancer, such as;

  • Gardner's syndrome
  • Werner syndrome
  • Von Hippel-Lindau syndrome - a rare genetic disease that causes the growth of benign or cancerous tumors
  • The Gorlin syndrome
  • Tuberous sclerosis (TS)
  • Li fraumeni syndrome - a genetic disorder that increases the risk of developing any type of cancer
  • Retinoblastoma
  • Neurofibromatosis type 1

2. Radiation exposure

Such as high-dose radiotherapy for another type of cancer.

3. Chemical exposure

Such as materials used in the production of plastics.

What are the symptoms of sarcoma?

Sarcoma symptoms vary depending on the tumor's location. Some types of sarcoma cancer, for example, do not cause symptoms early, while others may cause a lump under the skin without causing pain, and still others do not cause pain until the tumor grows dangerously and spreads, causing significant damage to the affected area. However, the most common sarcoma symptoms are:

  • Bone pain
  • Swelling in the abdomen causes abdominal pain
  • Weight loss
  • A lump under the skin is painless and grows in size over time
  • A lump near the lungs that causes coughing or shortness of breath
  • Difficulty moving an arm or a leg

If you experience any of these symptoms, you should see a doctor because the symptoms are similar to those of other non-cancerous diseases. A lump under the skin, for example, could simply be a fatty lump or fluids under the skin.

What types of sarcoma?

According to the tumor's location in the body, there are many types of sarcoma. There are more 70 known subtypes, including:

  • Osteosarcoma - most common type of bone sarcoma
  • leiomyosarcoma - most common type of sarcoma
  • liposarcoma - fat cells in the body
  • angiosarcoma - affects blood cells and the lining of blood vessels 
  • Stromal tumors of the gastrointestinal tract - affect the stomach, small intestine, and the connective tissues that support the digestive organs

  How would I know if I have a sarcoma?

If you develop symptoms of sarcoma, your doctor may order some tests to confirm the diagnosis, such as:


1. X ray

Because of its speed and accuracy, it is considered the first examination required by the doctor, and he may later request a CT scan or an MRI scan to further confirm the condition of the soft tissues.


2. biopsy

It entails taking a sample of tissue suspected of having sarcoma via surgery or a simple needle under the skin and examining it in the laboratory to determine whether or not there are cancerous cells.

3. Genetic testing

 Genetic testing greatly aids in determining the changes in chromosomes and genes that increase the likelihood of cancer and accurately determining them to help the doctor choose the appropriate treatment for the condition, whether gene therapy, targeted therapy, or other treatment methods. Genetic testing also aids in the early detection of sarcoma in order to make prevention recommendations.

Can sarcoma be cured?

Sarcoma treatment varies depending on several factors, including:

  • The kind of sarcoma
  • The tumor's location and size
  • The patient's physical condition

As a result, the doctor may use one of the following treatment methods:

1. surgery

If sarcoma is detected early, the doctor may resort to surgery to remove the entire tumor, which may result in amputation of the affected leg or arm, but doctors try to avoid this as much as possible and preserve the organs. The surgery may result in complications with organs and nerves, which can be treated later if necessary, such as replacing bones or installing metal plates to rebuild joints.

2. Radiation therapy

Some types of sarcoma may require radiation therapy before or after surgery to improve recovery chances. If surgery is not an option, it may be the only way to relieve sarcoma symptoms and slow its spread. Radiation therapy has some side effects, including:

  • Dermatitis
  • Tiredness and fatigue
  • hair loss

Doctors reduced the number of radiotherapy sessions while increasing the dose to reduce side effects and increase treatment effectiveness in order to reduce these symptoms and achieve greater benefit from radiotherapy.

3. Chemotherapy

Chemotherapy may be used prior to surgery to shrink the tumor and make it easier to remove. In some cases where surgery does not work, the doctor may combine it with radiotherapy.

4. Immunotherapy

Cancer cells produce proteins or substances that prevent the immune system from fighting them, so it may require intervention with immunotherapy drugs to help it fight cancer cells.

5. Cancer targeted therapy

Cancer targeted therapy, which uses drugs to kill cancer cells and stop their spread, may be effective in some cases of sarcoma.

Finally, the best treatment for a sarcoma patient is determined by his genetic make-up. As a result, a comprehensive genetic screening for cancer aids in the early detection of sarcoma and other types of cancer by examining more than 100 genes in which changes may lead to an increase in the chances of developing any type of cancer. If you have a family member who has sarcoma or another type of cancer, or if you have a child who has sarcoma, genetic testing is critical to preventing and treating it early for a healthier life.

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