Risk Factors, Symptoms and Diagnosis of Sarcoma

A risk factor is something that can increase your chances of getting a disease, such as cancer. Several factors may raise the risk of developing sarcoma, including:

• Inherited Syndromes: Genetic conditions passed from parents, such as neurofibromatosis type 1, familial retinoblastoma, and tuberous sclerosis, can raise the risk. Other cancer-related genetic syndromes, like Li-Fraumeni and Gardner syndrome, also increase risk.
• Radiation Therapy: Past radiation treatments for other cancers can increase the likelihood of developing sarcoma later.
• Chronic Swelling (Lymphedema): Lymphedema, caused by blocked or damaged lymph nodes, can raise the risk of developing angiosarcoma.
• Chemical Exposure: Being exposed to certain chemicals, such as industrial chemicals or herbicides, can increase the risk of liver sarcomas.
• Virus Exposure: The human herpesvirus 8 (HHV8) can lead to Kaposi’s sarcoma, especially in people with weakened immune systems, like those with HIV or AIDS.

The exact cause of most sarcomas is not well understood. Cancer often begins when mutations occur in a cell’s DNA, which controls the cell’s functions, growth and division. These mutations may cause cells to grow uncontrollably and avoid dying like normal cells. Over time, the abnormal cells can form a tumor and spread to other parts of the body (metastasize). Sarcomas occur when immature bone or soft tissue cells mutate and grow into cancer cells, which can invade nearby tissues and spread if not treated.

Symptoms of Sarcoma

Symptoms of sarcoma can vary depending on the location of the tumor. Some sarcomas do not cause noticeable symptoms until they grow large enough to press on nearby organs, nerves or muscles. Early on, some may feel like a painless lump under the skin. As the tumor grows, it may cause pain or discomfort.

Common Symptoms of Bone Sarcomas

• Persistent pain that gets worse over time
• Swelling or lumps near the bone
• Fractures that occur easily or after minor injury or no injury at all
• Pain in the bones of the arms, legs, abdomen or pelvis
• Unusual pain that worsens at night

Sarcomas in Soft Tissues (Arms and Legs)

• Painless lumps that may grow over time that may or may not be painful
• Firm lumps that can’t be easily moved
• Lumps that grow to the size of a golf ball (or smaller, like a pea)
• Lumps that are deeper within the tissue
• Unexplained weight loss

Sarcomas of the Retroperitoneum (Abdomen or Back)

• Persistent belly or back pain
• Bloated or enlarged belly
• Feeling full quickly when eating
• Blood in stool
• Loss of appetite
• Changes in bladder or bowel function
• Unintended weight loss

Since sarcoma shares symptoms with many other conditions, it is important to consult a healthcare provider to determine the cause of the symptoms.

Diagnosing Sarcoma

To diagnose sarcoma, your healthcare provider will first review your family and medical history and perform a physical examination. Accurate diagnosis of sarcoma requires a combination of imaging tests and a biopsy to determine the type and extent of the tumor. The type of test depends on the suspected tumor’s location and whether it involves soft tissue or bone.

If the tumor is found to be benign rather than sarcoma, we will provide the necessary care for that condition. Our team is experienced in treating both simple and complex benign bone and soft tissue tumors.

Imaging Tests

These tests help identify the size, location, and spread of the tumor:

• X-rays: Best for detecting bone tumors and determining if cancer started in the bone or spread there. X-rays can sometimes help identify the type of bone sarcoma.
• Ultrasound: Useful for evaluating soft tissue masses. It can distinguish between fluid-filled cysts and solid tumors but is not used for diagnosing bone sarcomas.
• CT Scans: These provide cross-sectional images of the tumor and surrounding areas. CT scans are especially helpful in detecting whether sarcoma has spread to organs like the lungs.
• MRI: Uses magnets and radio waves to produce detailed images, particularly of soft tissues. MRIs are important for diagnosing sarcoma and planning surgical treatment.
• Bone Scans: Involves injecting a small amount of radioactive material to highlight bone abnormalities. It can show the entire skeleton and detect bone sarcomas or metastatic spread.
• PET Scans: A radioactive substance is injected, which accumulates in rapidly growing cancer cells. PET scans can reveal the spread of cancer to other bones, lungs, or tissues and assess response to treatment.

Blood Tests

While not used to diagnose sarcomas, blood tests can be helpful after diagnosis. High levels of chemicals like alkaline phosphatase or LDH may indicate advanced osteosarcoma.

Biopsy

A biopsy confirms whether a tumor is a sarcoma and identifies its type, which is crucial for determining treatment. There are two types of biopsies:

• Needle Biopsy: A less invasive procedure where a needle is used to extract a tissue sample. Local anesthesia is typically used. This is the preferred method for getting a diagnosis.
• Open Biopsy: A surgical procedure under some form of anesthesia, where a larger sample of bone or tissue is removed for analysis. This is generally discouraged if a needle biopsy is feasible.

If the tumor involves a bone, the biopsy must be performed by specialists experienced in treating bone tumors to ensure accurate diagnosis and avoid complications.

It is important to understand that a needle biopsy, done by experienced teams, can be done safely with very little risk of seeding the needle track or causing rupture.

Bone Biopsy

A bone biopsy specifically examines bone tissue to detect cancer or other abnormalities. Unlike a bone marrow biopsy, which analyzes the inner part of the bone, a bone biopsy focuses on the outer layers.

Learn more about bone biopsies, from what happens during the procedure to next steps.