Stiffness, pain, swelling, or tenderness in the bone or in the tissue surrounding the bone (About 85% of children with EFT have pain.)

A lump near the surface of the skin that may feel warm and soft to the touch

A fever that doesn't go away

A broken bone that happens without an injury, as a tumor growing in the bone can cause the bone to weaken or fracture (break)

Your child’s doctor will ask you questions about the symptoms you are experiencing to help find out the cause of the problem, called a diagnosis. This may include how long your child has been experiencing the symptom(s) and how often.

If cancer is diagnosed, relieving symptoms and side effects remains an important part of your child’s cancer care and treatment. This may also be called symptom management, palliative care, or supportive care. Be sure to talk with your child’s health care team about symptoms your child experiences, including any new symptoms or a change in symptoms. 

Risk Factors

A risk factor is anything that increases a person's chance of developing a tumor. Although risk factors often influence the development of a tumor, most do not directly cause a tumor. Some people with several risk factors never develop a tumor, while others with no known risk factors do.

Doctors and researchers do not know what causes most cancers in children and teens, but the following factors may raise a person’s chance of developing EFT:

Genetic changes. Changes in a tumor cell's chromosomes appear to be responsible for EFT, but the disease is not inherited (meaning it doesn’t come from the father or mother). The genetic changes occur for no known reason. A high percentage of tumor cells have a chromosomal translocation, which means that small pieces of genetic material swap places inside the tumor cell. Usually the translocation is between chromosomes 11 and 22, although it may also occur between chromosomes 21 and 22, 7 and 22, and 17 and 22. The fusion of these bits of genetic material results in the uncontrolled growth of EFT cells.

Age. About two-thirds (64%) of all people with EFT are between the ages of 10 and 20. EFT is rare in adults older than 30 and in very young children.

Gender. EFT is more common among boys than girls.

Diagnosis

Doctors use many tests to diagnose EFT and find out if it has metastasized (spread). Some tests may also determine which treatments may be the most effective. For most types of tumors, a biopsy is the only way to make a definitive diagnosis of cancer. If a biopsy is not possible, the doctor may suggest other tests that will help make a diagnosis. Imaging tests may be used to find out whether the tumor has metastasized. Your child’s doctor may consider these factors when choosing a diagnostic test:

Age and medical condition

Type of tumor suspected

Severity of symptoms

Previous test results

In addition to a physical examination, the following tests may be used to diagnose EFT:

Blood tests. A complete blood count (CBC) is a blood test done to count the number of each type of blood cells. Abnormal levels of white blood cells, red blood cells, and platelets can be a sign that the tumor has spread. The doctor may also check liver and kidney function and look for high levels of a particular blood enzyme (lactate dehydrogenase, or LDH), which sometimes helps to determine the presence of a tumor in the body.

Imaging tests

X-ray. An x-ray is way to create a picture of the organs and tissues inside of the body, using a small amount of radiation. Doctors can usually find bone tumors with an x-ray.

Bone scan. A bone scan uses a radioactive tracer to look at the inside of the bones. The tracer is injected into a patient’s vein. It collects in areas of the bone and is detected by a special camera. Healthy bone appears gray to the camera, and areas of injury, such as those caused by cancer, appear dark.

Computed tomography (CT or CAT) scan. A CT scan creates a three-dimensional picture of the inside of the body with an x-ray machine. A computer then combines these images into a detailed, cross-sectional view that shows any abnormalities or tumors. Sometimes, a contrast medium (a special dye) is swallowed or injected into a vein to provide better detail.

Positron emission tomography (PET) scan. A PET scan is a way to create pictures of organs and tissues inside the body. A small amount of a radioactive substance is injected into a patient’s body. This substance is absorbed mainly by organs and tissues that produce the most energy. Because tumors tend to use energy actively, it absorbs more of the radioactive substance. A scanner then detects this substance to produce images of the inside of the body. For EFT, an integrated PET/CT scan is often more sensitive than a PET scan alone.

Magnetic resonance imaging (MRI). An MRI uses magnetic fields, not x-rays, to produce detailed images of the body. A contrast medium may be injected into a patient’s vein to create a clearer picture.

Surgical tests

Biopsy. A biopsy is the removal of a small amount of tissue for examination under a microscope. If the tumor is an arm or leg, an orthopedic oncologist (a doctor who specializes in cancers of the musculoskeletal system) or an interventional radiologist who has experience with EFT should perform the biopsy. The doctor may take a sample of the tumor itself, the bone marrow (the soft, spongy tissue that is found in the center of larger bones), or both. Other tests can suggest that cancer is present, but only a biopsy can make a definite diagnosis. The sample removed from the biopsy is analyzed by a pathologist (a doctor who specializes in interpreting laboratory tests and evaluating cells, tissues, and organs to diagnose disease).

Bone marrow biopsy and aspiration. These two procedures are similar and often done at the same time. Bone marrow has both a solid and a liquid part. A bone marrow biopsy is the removal of a small amount of solid tissue using a needle. An aspiration removes a sample of fluid with a needle. The sample(s) are then analyzed by a pathologist. A common site for a bone marrow biopsy and aspiration is the hipbone in the lower back. The skin in that area is usually numbed with medication beforehand, and other types of anesthesia (medication to block the awareness of pain) may be used. 

Post-biopsy laboratory tests

Using the tissue sample obtained from the biopsy, the doctor can conduct other laboratory tests to learn more about the tumor.

Immunohistochemistry. This test detects EFT cells in the tissue sample.

Cytogenetics test and reverse transcription polymerase chain reaction test (RT-PCR). These tests determine if the genetic changes that characterize EFT cells are present in the sample.

After these diagnostic tests are done, your doctor will review all of the results with you. If the diagnosis is cancer, these results also help the doctor describe the cancer; this is called staging.

Stages

Staging is a way of describing where the tumor is located, if or where it has spread, and whether it is affecting the functions of other organs in the body. Doctors use diagnostic tests to determine the tumor’s stage, so staging may not be complete until all of the tests are finished. Knowing the stage helps the doctor to decide what kind of treatment is best and can help predict a patient’s prognosis (chance of recovery). There are different stage descriptions for different types of tumors.

Although there is no official staging system for EFT, the following criteria help doctors describe EFT and work together to plan the best treatments:

Localized EFT. The tumor has remained in the bone or tissue where it began or spread only to the nearby tissues.

Metastatic EFT. The tumor has spread from the bone or tissue where it began to other parts of the body, such as the lungs, other bones, or bone marrow. Rarely, the disease spreads to the lymph nodes, brain, or spinal cord. Approximately 25% of patients with EFT will have obvious evidence of tumor spread at the time of diagnosis. Whether the tumor has spread is the most important factor used to determine the treatment options and a patient’s prognosis.

Recurrent EFT. Recurrent EFT is a tumor that comes back after treatment. It may recur where it began (a local recurrence) or in another part of the body (metastatic recurrence). If there is a recurrence, the cancer may need to be staged again (called re-staging) using the system above.

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