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What is Sarcoma?

Essential information on sarcoma, including its subtypes, diagnosis, treatment options, and additional resources.

Overview

Sarcoma is a rare cancer accounting for 1% of all adult cancer and 15% – 20% of childhood cancers. There are two main types: tumors that form in bones, tumors that form in muscles, fat, nerves and other soft tissues.

Approximately 17,000 people are diagnosed with sarcoma each year in the United States, approximately 4,000 bone sarcomas and 13,000 soft tissue sarcomas. At any one time, more than 50,000 patients and their families are struggling with sarcoma.

There are over 100 subtypes of sarcoma as classified by the World Health Organization (WHO). Sarcomas can arise anywhere in the body and from a variety of tissue structures (nerves, muscles, joints. bone, fat, blood vessels – collectively referred to as the body’s “connective tissues”). The most frequent location are the limbs since this is where the majority of the body’s connective tissue resides.

  • 40% occur in the lower extremities (legs, ankles, feet)
  • 30% occur in the trunk (check wall, abdomen, pelvis)
  • 15% occur in the upper extremities (shoulders, arms, wrists, hands)
  • 15% occur in the head and neck

Sarcomas are commonly hidden deep in the body, so sarcoma is often diagnosed when it has already become too large to expect a hope of being cured. Although a lot of the lumps and bumps we get are benign, people should have them looked at by a doctor at an early stage in case it is sarcoma.

Sarcoma is sometimes curable by surgery (about 20% of the time), or by surgery with chemotherapy and/or radiation (another 50-55%), but about half the time they are totally resistant to all of these approaches-thus the extreme need for new therapeutic approaches.

Scientists do not fully understand why some people develop sarcomas while the vast majority do not. However, researchers have been able to single out some factors that may play a role in causing sarcomas. Sarcoma has more than 100 distinct subtypes and its causes can vary by subtype.

Causes and Risk Factors

DNA Mutations

Many cancers, including sarcoma, result from DNA mutations. Changes to DNA develop into cancer cells that grow in an unregulated way. They can eventually form a mass or tumor that can invade nearby healthy tissues. Left untreated, the cancer can travel via your bloodstream or lymphatic system to other organs which causes metastasis.

Inherited Syndromes

Studies have focused on genetic alterations that may lead to the development of sarcomas. Scientists have also found a small number of families in which more than one member in the same generation has developed sarcoma. There have also been reports of a few families in which relatives of children with sarcoma have developed other forms of cancer at an unusually high rate. Sarcomas in these family clusters, which represent a very small fraction of all cases, may be related to a rare inherited genetic alteration.

Inherited diseases associated with an increased risk of developing soft tissue sarcomas include Li-Fraumeni syndrome (associated with alterations in the p53 gene) or von Recklinghausen’s disease/ neurofibromatosis 1 (associated with alterations in the NF1 gene) are at an increased risk of developing soft tissue sarcomas.

While these syndromes can increase the likelihood of developing sarcoma, it is important to note that in the vast majority of cases, sarcoma occurs randomly with no clear hereditary component.

Radiation Therapy for Cancer

In the early 1900s, when scientists were just discovering the potential uses of radiation to treat disease, little was known about safe dosage levels and precise methods of delivery. At that time, radiation was used to treat a variety of noncancerous medical problems, including enlargement of the tonsils, adenoids, and thymus gland. Later, researchers found that high doses of radiation caused sarcomas in some patients. Because of this risk, radiation treatment for cancer is now planned to ensure that the maximum dosage of radiation is delivered to diseased tissue while surrounding healthy tissue is protected as much as possible. However, people who have received radiation therapy for a previous cancer treatment have a higher risk of developing a sarcoma later.

Chronic Swelling (Lymphedema)

Lymphedema is swelling caused by a backup of lymph fluid that occurs when the lymphatic system is blocked or damaged. Having lymphedema, or swelling, in the arms or legs for an extended time may increase the risk of developing a sarcoma.

Exposure to Chemicals

Certain chemicals, such as some industrial chemicals and herbicides, chlorophenols in wood preservatives, vinyl chloride monomer (a substance used to make some types of plastics), dioxin or arsenic may increase the risk of sarcoma. However, most sarcomas are not known to be associated with specific environmental hazards.

Exposure to Viruses

The virus called human herpesvirus 8 can increase the risk of a type of sarcoma called Kaposi’s sarcoma in people with weakened immune systems.

Signs and symptoms of sarcoma include

  • A lump that can be felt through the skin that may or may not be painful.
  • Bone pain
  • A broken bone that happens unexpectedly, such as with a minor injury or no injury at all
  • Abdominal pain
  • Weight loss

Diagnosis

Imaging tests such as X-ray, MRI, ultrasound, CT, bone scans and Positron Emission Tomography (PET) scans are used to diagnose sarcoma. The test is dependent upon an individual’s situation. Some tests are better for diagnosing bone sarcomas and others are better at detecting soft tissue sarcomas.

However, the only reliable way to determine whether a tumor is benign or malignant is through a surgical biopsy. Therefore, all soft tissue and bone lumps that persist or grow should be biopsied. A biopsy is a procedure to remove a piece of suspicious tissue for lab testing.

During this procedure, a doctor makes an incision or uses a special needle to remove a sample of tumor tissue. A pathologist examines the tissue and lab tests can determine whether the cells are cancerous and what sarcoma subtype they represent. If cancer is present, the pathologist can usually determine the type of cancer and its grade. The grade of the tumor is determined by how abnormal the cancer cells appear when examined under a microscope. The grade predicts the probable growth rate of the tumor and its tendency to spread. Low-grade sarcomas, although cancerous, are unlikely to spread to other parts of the body (metastasize). High-grade sarcomas are more likely to spread metastasize.

How a biopsy sample is collected depends on your particular situation. It could be removed with a needle passed through the skin or cut away during an operation.

Treatment

In general, treatment for sarcomas depends on the stage and subtype. The stage of the sarcoma is based on the size and grade of the tumor, and whether the cancer has spread to the lymph nodes or other parts of the body (metastasized). Traditional treatment options for sarcomas include surgery, radiation therapy, and chemotherapy. Developments in sarcoma treatment include the use of immunotherapies, targeted, and cellular therapies (a subtype of immunotherapy).

Surgery is the most common treatment for sarcomas. If possible, the doctor may remove the cancer and a safe margin of the healthy tissue around it. Depending on the size and location of the sarcoma, it may occasionally be necessary to remove all or part of an arm or leg (amputation). However, the need for amputation rarely arises; no more than 10 percent to 15 percent of individuals with sarcoma undergo amputation. In most cases, limb-sparing surgery is an option to avoid amputating the arm or leg. In limb-sparing surgery, as much of the tumor is removed as possible, and radiation therapy and/or chemotherapy are given either before the surgery to shrink the tumor or after surgery to kill the remaining cancer cells.

Radiation therapy (treatment with high-dose x-rays) may be used either before surgery to shrink tumors or after surgery to kill any cancer cells that may have been left behind.

Chemotherapy (treatment with anticancer drugs) may be used with radiation therapy either before or after surgery to try to shrink the tumor or kill any remaining cancer cells. If the cancer has spread to other areas of the body, chemotherapy may be used to shrink tumors and reduce the pain and discomfort they cause, but is unlikely to eradicate the disease. The use of chemotherapy to prevent the spread of sarcomas has not been proven to be effective. Patients with sarcomas usually receive chemotherapy intravenously (injected into a blood vessel).

Immunotherapy is a form of treatment that uses your immune system to fight the sarcoma. Your body’s immune system may not attack your cancer because the cancer cells hide from the immune system cells. The tumor puts the “brakes” on the immune system and the immunotherapy treatment releases the “brakes”.

Targeted therapy is a treatment that uses medicines that target specific mutations present in the tumor cells. Your doctor should test your tumor cells (genomic sequencing) to determine if they harbor targetable mutations.

Ablation therapy treatments destroy cancer cells by applying electricity to heat the cells, very cold liquid to freeze the cells or high-frequency ultrasound waves to damage the cells.

Clinical trials are being done to find new, more effective treatments for sarcomas, and better ways to use current treatments.

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