Bone sarcoma – Diagnostics – Overview of Information and Clinical Research

Bone sarcoma, also known as primary bone cancer, is a rare disease where cancerous tumors develop directly in the bones. Getting the right diagnosis early can make a significant difference in treatment outcomes, yet the symptoms often resemble common injuries or growing pains, making detection challenging.

Introduction: Who Should Undergo Diagnostics and When

If you experience persistent bone pain that doesn’t go away, especially pain that wakes you up at night or keeps getting worse over time, it’s important to see your doctor. Bone sarcoma can affect anyone, but it most commonly occurs in children, teenagers, and young adults, with a smaller increase in cases among people over 60 years old^[1]^[2].

The challenge with bone sarcoma is that its early signs can easily be mistaken for something less serious. A bump from playing sports, a growing pain in an active teenager, or what seems like arthritis can all delay the discovery of bone cancer. Many people only seek medical help after the symptoms persist for weeks or months. Pain, swelling, and difficulty moving around are the most common symptoms, but these can vary depending on the size of the cancer and where it is located in your body^[1]^[2].

You should consider getting checked if you notice a lump or swelling near a bone that doesn’t go away, if you have bone pain that seems to get worse rather than better, or if a bone breaks unexpectedly after what should be a minor injury. This is called a pathologic fracture, which means the bone breaks because it has been weakened by disease^[2]^[4]. Some people also experience unexplained fever or significant weight loss without trying^[2].

Because bone sarcoma is rare and its symptoms overlap with many common conditions, doctors may not immediately suspect cancer. This is why it’s crucial to speak up if your symptoms persist or worsen. If your pain continues after what you thought was a simple injury, if swelling doesn’t go down, or if you feel something just isn’t right, don’t hesitate to return to your doctor or ask for further testing^[16].

⚠️ Important

Bone pain that appears after minor trauma, continues for weeks, causes you to wake up at night, or comes with swelling should be evaluated with imaging tests. Early diagnosis improves the chances of successful treatment and may preserve the affected limb^[16].

Diagnostic Methods

Diagnosing bone sarcoma involves several steps. Your journey typically starts with a visit to your family doctor, who will examine you and ask about your symptoms. If your doctor suspects something more serious than a simple injury or growing pain, they will refer you for tests or to see a specialist^[1].

Imaging Tests

The first and most important diagnostic test for bone sarcoma is usually a plain X-ray. X-rays use radiation to create pictures of the inside of your body, and they can show abnormalities in the bone that might suggest cancer^[9]^[16]^[23]. If the X-ray shows something concerning, your doctor will order additional imaging tests to get a clearer picture of what’s happening.

A magnetic resonance imaging scan, or MRI, is often the next step. An MRI uses magnets and radio waves to create detailed images of your soft tissues, including muscles, nerves, and blood vessels around the bone. This helps doctors see how far the cancer may have spread into the surrounding areas and whether it has affected nearby structures^[9]^[10]^[23].

A computed tomography scan, also called a CT scan, may also be used. CT scans create three-dimensional images of your body and are particularly useful for seeing detailed pictures of your bones and checking if the cancer has spread to your lungs, which is a common site for bone cancer to travel to^[9]^[10]^[23].

Other imaging tests include a bone scan, which can show if the cancer has spread to other bones in your body, and a positron emission tomography scan, or PET scan, which can help identify areas of active cancer throughout your body^[9]^[23].

Biopsy

To confirm whether a growth in your bone is actually cancer, doctors need to take a small sample of tissue and examine it under a microscope. This procedure is called a biopsy^[9]^[10]^[23]. There are two main types of biopsy for bone sarcoma: needle biopsy and surgical biopsy.

During a needle biopsy, the doctor inserts a thin needle through your skin and into the tumor to collect a small amount of tissue. This can often be done with local anesthesia and doesn’t require a large incision^[23]. In a surgical biopsy, a surgeon makes a cut in the skin to reach the tumor and removes a larger piece of tissue for testing^[23].

It’s very important that the biopsy is performed by a surgeon who has experience with bone cancer. The way the biopsy is done can affect future treatment options, particularly surgery to remove the cancer. If the biopsy is not done correctly, it might make it harder to save the limb later on. For this reason, you should ask to be referred to a cancer center that specializes in treating bone sarcomas before having a biopsy^[9]^[16]^[23].

The tissue sample taken during the biopsy is sent to a laboratory where a specialist called a pathologist examines it under a microscope. The pathologist will determine whether the cells are cancerous, what type of bone sarcoma it is, and how aggressive the cancer appears to be. This information is called the grade of the cancer, which tells doctors how fast the tumor is likely to grow and spread^[10]^[23].

Determining the Stage

Once bone sarcoma is confirmed, the next step is to find out how much the cancer has spread. This is called staging. The stage of cancer tells doctors whether the tumor is still only in the bone where it started, whether it has spread to nearby tissues, or whether it has traveled to distant parts of the body such as the lungs or other bones^[10]^[23].

To determine the stage, doctors use information from all the imaging tests and the biopsy results. They look at the size of the tumor, its grade, and whether cancer cells have been found in other locations. The most common place for bone sarcoma to spread is the lungs, so a CT scan of the chest is usually performed^[7]^[10].

Understanding the stage and grade of bone sarcoma is crucial because it helps the medical team create the best treatment plan for each individual patient^[23].

⚠️ Important

If imaging tests suggest you might have bone cancer, you should be referred immediately to a specialized cancer center. Biopsy should only be performed by an experienced surgeon at a center that treats bone sarcomas regularly, as this can affect your future treatment options and outcomes^[14]^[16].

Diagnostics for Clinical Trial Qualification

Clinical trials are research studies that test new treatments or new ways of using existing treatments. For patients with bone sarcoma, participating in a clinical trial may provide access to cutting-edge therapies that are not yet widely available^[14].

To qualify for a clinical trial, patients usually need to meet specific criteria. These criteria are called eligibility requirements, and they help ensure that the trial is safe for participants and that the results will be meaningful for medical science. The diagnostic tests and procedures used to determine eligibility are similar to those used for standard diagnosis, but they may be more detailed or include additional tests.

Most clinical trials for bone sarcoma require a confirmed diagnosis through biopsy. The biopsy tissue is examined not only to confirm that the tumor is bone sarcoma but also to identify the specific subtype, such as osteosarcoma, Ewing sarcoma, or chondrosarcoma^[3]^[7]. Some trials may even require genetic testing of the tumor cells to look for specific mutations or markers that might predict how the cancer will respond to a particular treatment.

Imaging tests such as MRI, CT scans, and PET scans are also used to establish the stage of the cancer and to measure the size of the tumor before treatment begins. This baseline information is critical because researchers need to compare these results with images taken after treatment to see if the therapy is working^[10]^[23].

In addition to tumor-specific tests, clinical trials often require general health assessments to ensure that participants are healthy enough to tolerate the experimental treatment. For example, if a trial involves chemotherapy, doctors may perform heart tests such as an echocardiogram or an electrocardiogram to make sure the patient’s heart is strong enough to handle the medications. Blood tests will check kidney and liver function, as some chemotherapy drugs can affect these organs^[10].

For younger patients who may receive chemotherapy, reproductive health planning may also be part of the pre-trial evaluation. Some cancer treatments can affect fertility, so doctors may discuss options for preserving eggs or sperm before treatment begins^[8].

Clinical trials may also have specific requirements about the extent of the disease. For example, some trials only accept patients with localized disease that has not spread, while others are designed for patients whose cancer has metastasized or come back after previous treatment^[10]^[14].

If you or your child is interested in participating in a clinical trial, your doctor can help you find trials that are appropriate based on the type and stage of bone sarcoma. The diagnostic information gathered during the initial evaluation will be used to match you with a suitable trial. Keep in mind that participating in a trial is always voluntary, and you can choose to stop at any time^[14].

Prognosis and Survival Rate

Prognosis

The prognosis for bone sarcoma depends on several important factors. The most significant factor is whether the cancer has spread to other parts of the body at the time of diagnosis. When bone sarcoma is found early and is still localized, meaning it has not spread beyond the bone where it started, the chances of successful treatment are much better^[12]^[16].

For patients with osteosarcoma, which is the most common type of bone sarcoma, survival rates have improved significantly over the past several decades thanks to advances in chemotherapy and surgical techniques. When the cancer is localized, survival rates can reach nearly 80%, and between 90% and 95% of patients do not require amputation of their limb^[16]. This means that most people can keep their arm or leg through limb-sparing surgery.

However, if the cancer has already spread to the lungs or other bones at the time of diagnosis, the prognosis becomes more challenging. The presence of metastasis, which is when cancer travels to distant parts of the body, lowers the five-year survival rate to between 20% and 30% for both osteosarcoma and Ewing sarcoma^[16]. This is why early detection and prompt treatment are so important.

The type of bone sarcoma also affects prognosis. Chondrosarcoma, which is the rarest of the three main types and primarily affects adults over 40 years old, generally has a better outlook because most of these tumors are low-grade, meaning they grow more slowly and are less likely to spread quickly^[16].

Age can also play a role. Bone sarcomas that occur in children and teenagers, particularly osteosarcoma and Ewing sarcoma, are often treated very aggressively with a combination of chemotherapy and surgery. Younger patients may tolerate these intensive treatments better than older adults. Ewing sarcoma in adults tends to have a more difficult treatment path compared to children with the same condition^[3].

How well the cancer responds to chemotherapy before surgery is another important factor. Doctors often give chemotherapy before removing the tumor to shrink it and make surgery easier. If the tumor responds well to this initial chemotherapy, it is a good sign that the cancer will be easier to control in the long term^[11]^[15].

Survival Rate

Survival rates for bone sarcoma vary depending on the type and stage of the cancer. For localized osteosarcoma, where the cancer has not spread, the five-year survival rate is approximately 70% to 80%^[16]. This means that about 7 to 8 out of every 10 people diagnosed with localized osteosarcoma are still alive five years after their diagnosis.

When osteosarcoma has spread to the lungs or other parts of the body at the time of diagnosis, the five-year survival rate drops significantly to around 20% to 30%^[16]. Surgery to remove tumors that have spread to the lungs is sometimes possible and can improve survival chances, but not all patients are candidates for this type of surgery^[15].

Ewing sarcoma has similar survival statistics to osteosarcoma. When the disease is localized, survival rates are quite good, but the presence of metastasis at diagnosis significantly worsens the outlook^[16].

Chondrosarcoma generally has higher survival rates compared to osteosarcoma and Ewing sarcoma because it tends to be a slower-growing cancer. Most chondrosarcomas are low-grade tumors, which means they are less aggressive and less likely to spread quickly^[16]. However, because chondrosarcoma does not respond as well to chemotherapy, surgery is the main treatment, and the success of treatment depends largely on whether the entire tumor can be removed^[15].

It’s important to remember that survival rates are based on statistics from large groups of people and cannot predict what will happen to any individual patient. Each person’s situation is unique, and factors such as overall health, response to treatment, and the specific characteristics of the tumor all play a role in determining outcomes^[1].

#1 Clinical Trials Search in Europe