How is Ewings sarcoma diagnosed?

Ewing's sarcoma is a rare type of cancer that primarily affects children and young adults. It is a malignant tumor that usually arises in the bones but can also develop in soft tissues. Diagnosing Ewing's sarcoma involves a combination of medical history evaluation, physical examination, imaging tests, and laboratory investigations.

Medical History and Physical Examination

When a patient presents with symptoms that may suggest Ewing's sarcoma, the first step in the diagnostic process is taking a detailed medical history. The healthcare provider will inquire about the patient's symptoms, their duration, and any associated factors. They will also ask about the patient's personal and family medical history.

Following the medical history, a thorough physical examination is conducted. The healthcare provider will carefully examine the affected area, looking for any signs of swelling, tenderness, or a palpable mass. They will also assess the patient's general health and check for any other potential symptoms.

Imaging Tests

Imaging tests play a crucial role in diagnosing Ewing's sarcoma. They help visualize the tumor, determine its location, and assess its extent. The most commonly used imaging techniques include:

X-rays:

X-rays are often the first imaging test performed when Ewing's sarcoma is suspected. They can reveal bone abnormalities, such as a tumor or bone destruction, which may indicate the presence of Ewing's sarcoma.

Magnetic Resonance Imaging (MRI):

MRI uses powerful magnets and radio waves to create detailed images of the body. It provides a more comprehensive view of the tumor and surrounding tissues, helping determine the tumor's size, extent, and involvement of nearby structures.

Computed Tomography (CT) Scan:

A CT scan combines X-ray images taken from different angles to create cross-sectional images of the body. It can provide detailed information about the tumor's size, location, and potential spread to other organs or tissues.

Bone Scan:

A bone scan involves injecting a small amount of radioactive material into the bloodstream. This material accumulates in areas of increased bone activity, such as those affected by Ewing's sarcoma. A special camera then detects the radioactive material, producing images that can help identify bone abnormalities.

Biopsy

A biopsy is the definitive diagnostic procedure for Ewing's sarcoma. It involves the removal of a small sample of tissue from the tumor for examination under a microscope. A biopsy can be performed using various techniques:

Needle Biopsy:

A needle biopsy involves inserting a thin needle into the tumor to extract a tissue sample. This procedure is guided by imaging techniques, such as ultrasound or CT scan, to ensure accurate placement of the needle.

Open Biopsy:

In an open biopsy, a surgical procedure is performed to directly access the tumor and remove a tissue sample. This type of biopsy is typically done when a needle biopsy is not feasible or if a larger tissue sample is required for further testing.

Laboratory Investigations

Once a tissue sample is obtained through biopsy, it is sent to a laboratory for further analysis. Highly trained pathologists examine the sample under a microscope to confirm the presence of Ewing's sarcoma. They also perform additional tests to determine the specific genetic and molecular characteristics of the tumor.

Genetic Testing

Ewing's sarcoma is known to have a specific genetic abnormality called the EWSR1-FLI1 fusion gene. Genetic testing, such as fluorescence in situ hybridization (FISH) or polymerase chain reaction (PCR), can detect this fusion gene. Identifying the EWSR1-FLI1 fusion gene helps confirm the diagnosis of Ewing's sarcoma.

Summary

Diagnosing Ewing's sarcoma involves a comprehensive approach that includes medical history evaluation, physical examination, imaging tests, biopsy, laboratory investigations, and genetic testing. The combination of these diagnostic methods allows healthcare professionals to accurately diagnose Ewing's sarcoma and develop an appropriate treatment plan.