How is childhood leukemia diagnosed?
Most of the signs and symptoms of childhood leukemia are more likely to have other causes, such as infections. Still, it’s important to let your child’s doctor know about such symptoms right away so that the cause can be found and treated, if needed.
Exams and tests will be done to determine the cause of the symptoms. If leukemia is found, further tests will be needed to find out what type it is and decide how it should be treated.
It’s important to diagnose childhood leukemia as early as possible and to determine what type of leukemia it is so that treatment can be tailored to provide the best chance of success.
Medical history and physical exam
If your child has signs and symptoms that might suggest leukemia, the doctor will want to get a thorough medical history to learn about the symptoms and how long your child has had them. The doctor may also ask about exposure to possible risk factors. A family history of cancer, especially leukemia, may also be important.
During the physical exam, the doctor will focus on any enlarged lymph nodes, areas of bleeding or bruising, or possible signs of infection. The eyes, mouth, and skin will be looked at carefully, and a nervous system exam may be done. The abdomen (belly) will be felt for signs of an enlarged spleen or liver.
Tests to look for leukemia in children
If the doctor thinks your child might have leukemia, samples of your child’s blood and bone marrow will need to be checked to be sure of the diagnosis. Your child’s doctor may refer you to a pediatric oncologist, a doctor who specializes in childhood cancers (including leukemias), to have some of these tests done. If leukemia is found, other body tissue and cell samples may also be taken to help guide treatment.
The first tests done to look for leukemia are blood tests. The blood samples are usually taken from a vein in the arm, but in infants and younger children they may be taken from other veins (such as in the feet or scalp) or from a “finger stick.”
Blood counts and blood smears are the usual tests done on these samples. A complete blood count (CBC) is done to determine how many blood cells of each type are in the blood. For a blood smear, a small sample of blood is spread on a glass slide and looked at under a microscope. Abnormal numbers of blood cells and changes in the way these cells look may make the doctor suspect leukemia.
Most children with leukemia will have too many white blood cells and not enough red blood cells and/or platelets. Many of the white blood cells in the blood will be blasts, an early type of blood cell normally found only in the bone marrow. Even though these findings may make a doctor suspect that a child has leukemia, usually the disease can’t be diagnosed for sure without looking at a sample of bone marrow cells.
Bone marrow aspiration and biopsy
Bone marrow samples are obtained from a bone marrow aspiration and biopsy – 2 tests that are usually done at the same time. The samples are usually taken from the back of the pelvic (hip) bones, but sometimes they may be taken from the front of the pelvic bones or from other bones.
For a bone marrow aspiration, the skin over the hip bone is cleaned and numbed by injecting a local anesthetic or applying a numbing cream. In most cases, the child is also given other medicines to make them drowsy or even go to sleep during the procedure. A thin, hollow needle is then inserted into the bone, and a syringe is used to suck out (aspirate) a small amount of liquid bone marrow.
A bone marrow biopsy is usually done just after the aspiration. A small piece of bone and marrow is removed with a slightly larger needle that is pushed down into the bone. Once the biopsy is done, pressure will be applied to the site to help prevent any bleeding.
These bone marrow tests are used to diagnose leukemia, but they may also be repeated later to tell if the leukemia is responding to treatment.
Lumbar puncture (spinal tap)
This test is used to look for leukemia cells in the cerebrospinal fluid (CSF), which is the liquid that bathes the brain and spinal cord.
For this test, the doctor first applies a numbing cream in an area in the lower part of the back over the spine. The doctor usually also gives the child medicine to make him or her sleep during the procedure. A small, hollow needle is then placed between the bones of the spine to withdraw some of the fluid.
It is very important for this test to be done by an expert. Doctors have found that if the spinal tap isn’t performed expertly and some blood leaks into the CSF, in some cases leukemia cells may get into the fluid and grow there.
In children already diagnosed with leukemia, the first lumbar puncture is also used to give chemotherapy drugs into the CSF to try to prevent or treat the spread of leukemia to the spinal cord and brain.
Lymph node biopsy
This type of biopsy is important in diagnosing lymphomas, but it is rarely needed for children with leukemias.
During this procedure, a surgeon cuts through the skin to remove an entire lymph node (excisional biopsy). If the node is near the skin surface, this is a simple operation. But it is more involved if the node is inside the chest or abdomen. Most often the child will need general anesthesia (where the child is asleep).
Lab tests to diagnose and classify leukemia
As mentioned above, blood counts and smears are usually the first tests done when leukemia is a possible diagnosis. Any other samples taken (bone marrow, lymph node tissue, or CSF) are also looked at under a microscope. The samples might be exposed to chemical stains (dyes) that can cause color changes in some types of leukemia cells.
Doctors will look at the size, shape, and staining patterns of the blood cells in the samples to classify them into specific types. (See the section “How is childhood leukemia classified?” for more information on the types of leukemia.)
A key element is whether the cells look mature (like normal blood cells) or immature (lacking features of normal blood cells). The most immature cells are called blasts. Having too many blasts in the sample, especially in the blood, is a typical sign of leukemia.
An important feature of a bone marrow sample is its cellularity. Normal bone marrow contains a certain number of blood-forming cells and fat cells. Marrow with too many blood-forming cells is said to be hypercellular. If too few blood-forming cells are found, the marrow is called hypocellular.
Flow cytometry and immunohistochemistry
These tests are used for immunophenotyping – classifying leukemia cells based on certain proteins in or on the cells. This kind of testing is very helpful in determining the exact type of leukemia. It is most often done on cells from bone marrow, but it can also be done on cells from the blood, lymph nodes, and other body fluids.
For both flow cytometry and immunohistochemistry, samples of cells are treated with antibodies that stick to certain proteins. For immunohistochemistry, the cells are then examined under a microscope to see if the antibodies stuck to them (meaning they have these proteins), while for flow cytometry a special machine is used.
Flow cytometry can also be used to estimate the amount of DNA in the leukemia cells. This is important to know, especially in ALL, because cells with more DNA than normal (a DNA index of 1.16 or higher) are often more sensitive to chemotherapy, and these leukemias have a better prognosis (outlook).
Flow cytometry can also be used to measure the response to treatment and the existence of minimal residual disease (MRD, see “Prognostic factors in childhood leukemia”) in some types of leukemias.
Normal human cells have 23 pairs of chromosomes (strands of DNA), each of which is a certain size and looks a certain way under the microscope. But in some types of leukemia, the cells have changes in their chromosomes.
For instance, sometimes 2 chromosomes swap some of their DNA, so that part of one chromosome becomes attached to part of a different chromosome. This change, called a translocation, can usually be seen under a microscope. Other types of chromosome changes are also possible. Recognizing these changes can help identify certain types of acute leukemias and can help determine prognosis (outlook).
Some types of leukemia have cells with an abnormal number of chromosomes (instead of the usual 46) – they may be missing some chromosomes or have extra copies of some. This can also affect a patient’s outlook. For example, in ALL, chemotherapy is more likely to work if the cells have more than 50 chromosomes and is less likely to work if the cells have fewer than 46 chromosomes.
Finding these types of chromosome changes with lab tests can be very helpful in predicting a person’s outlook and response to treatment.
Cytogenetics: For this test, leukemia cells are grown in a lab dish and the chromosomes are looked at under a microscope to detect any changes, including missing or extra chromosomes. (Counting the number of chromosomes by cytogenetics provides similar information to measuring the DNA index by flow cytometry, as described above.)
Cytogenetic testing usually takes about 2 to 3 weeks because the leukemia cells must grow in lab dishes for a couple of weeks before their chromosomes are ready to be looked at under the microscope.
Not all chromosome changes can be seen under a microscope. Other lab tests can often help detect these changes.
Fluorescent in situ hybridization (FISH): This is another way to look at chromosomes and genes. It uses pieces of DNA that only attach to specific parts of particular chromosomes. The DNA is linked to fluorescent dyes that can be seen with a special microscope. FISH can find most chromosome changes (such as translocations) that are visible under a microscope in standard cytogenetic tests, as well as some changes too small to be seen with usual cytogenetic testing.
FISH can be used to look for specific changes in chromosomes. It can be used on blood or bone marrow samples. It is very accurate and can usually provide results within a couple of days.
Polymerase chain reaction (PCR): This is a very sensitive test that can also find some chromosome changes too small to be seen under a microscope, even if there are very few leukemia cells in a sample. This test can be very useful in looking for small numbers of leukemia cells (minimal residual disease, or MRD) during and after treatment that might not be detected with other tests.
Other blood tests
Children with leukemia will have tests to measure certain chemicals in the blood to check how well their body systems are working.
These tests aren’t used to diagnose leukemia, but in children already known to have it, they can help find damage to the liver, kidneys, or other organs caused by the spread of leukemia cells or by certain chemotherapy drugs. Tests are also often done to measure blood levels of important minerals, as well as to make sure the blood is clotting properly.
Children might also be tested for blood infections. It’s important to diagnose and treat infections in children with leukemia quickly because their weakened immune systems can allow infections to spread.
Imaging tests use x-rays, sound waves, magnetic fields, or radioactive particles to make pictures of the inside of the body. Leukemia doesn’t usually form tumors, so imaging tests aren’t as useful as they are for other types of cancer. But if leukemia is suspected or has been diagnosed, your child’s doctor may order some of these tests to get a better idea of the extent of the disease or to look for other problems, such as infections. (For more details on imaging tests, see Imaging (Radiology) Tests.)
A chest x-ray can help detect an enlarged thymus or lymph nodes in the chest. If the test result is abnormal, a computed tomography (CT) scan of the chest may be done to get a more detailed view.
Chest x-rays can also help look for pneumonia if your child might have a lung infection.
Computed tomography (CT) scan
The CT scan uses x-rays to make detailed, cross-sectional images of the body. Unlike a regular x-ray, CT scans can show the detail in soft tissues such as internal organs.
This test isn’t usually needed to diagnose leukemia, but it might be done if the doctor suspects the leukemia is growing in lymph nodes in the chest or in organs like the spleen or liver. It is also sometimes used to look at the brain and spinal cord, but an MRI scan may also be used for this.
Before the scan, your child may be asked to drink a contrast solution and/or get an intravenous (IV) injection of a contrast dye that helps better outline abnormal areas in the body. He or she may need an IV line through which the contrast dye is injected.
The IV injection of contrast dye can cause a feeling of flushing or warmth in the face or elsewhere. Some people are allergic and get hives or, rarely, have more serious reactions like trouble breathing and low blood pressure. Be sure to tell the doctor if your child has any allergies (especially to iodine or shellfish) or has ever had a reaction to any contrast material used for x-rays.
CT scans take longer than regular x-rays. A CT scanner has been described as a large donut, with a narrow table that slides in and out of the middle opening. Your child will need to lie still on the table while the scan is being done. Some children might need to be sedated before the test to help make sure they stay still so the pictures come out well.
PET/CT scan: Some machines combine the CT scan with a positron emission tomography (PET) scan. For a PET scan, a form of radioactive sugar (known as fluorodeoxyglucose or FDG) is injected into the blood. (The amount of radioactivity used is very low and will pass out of the body within a day or so.) Because cancer cells grow rapidly, they absorb large amounts of the sugar. A special camera can then create a picture of areas of radioactivity in the body. The picture from the PET scan is not detailed like those from a CT scan, but it provides helpful information about the whole body. The PET/CT scan lets the doctor compare areas of higher radioactivity on the PET scan with the more detailed appearance of that area on the CT scan.
Magnetic resonance imaging (MRI) scan
An MRI scan, like a CT scan, makes detailed images of soft tissues in the body. It’s most helpful in looking at the brain and spinal cord, so it’s most likely to be done if the doctor has reason to think the leukemia might have spread there (such as if the child has symptoms like headaches, seizures, or vomiting).
MRI scans use radio waves and strong magnets instead of x-rays, so there is no radiation involved.
A contrast material called gadolinium is often injected into a vein before the scan to better show details. This contrast material usually does not cause allergic reactions.
MRI scans take longer than CT scans – often up to an hour. Your child may have to lie inside a narrow tube, which is confining and can be distressing, so sedation is sometimes needed. Newer, more open MRI machines may be another option, although they still require that your child be able to lie still. All MRI machines make loud buzzing and clicking noises that your child may find disturbing. Some places provide headphones or earplugs to help block this out.
Ultrasound uses sound waves and their echoes to make pictures of internal organs or masses.
This test can be used to look at lymph nodes near the surface of the body or to look for enlarged organs inside the abdomen such as the kidneys, liver, and spleen. (It can’t be used to look at organs or lymph nodes in the chest because the ribs block the sound waves.)
For this test, a small, microphone-like instrument called a transducer is placed on the skin (which is first lubricated with gel). It gives off sound waves and picks up the echoes as they bounce off the organs. The echoes are converted by a computer into an image on a computer screen.
This is a fairly easy test to have, and it uses no radiation. Your child simply lies on a table, and a technician moves the transducer over the part of the body being looked at.
This test is not done often for childhood leukemias, but it may be useful if your child has bone pain that might be from either an infection or cancer in the bones. If your child has already been diagnosed with leukemia or if a PET scan (described above) has already been done, there is usually no need for a bone scan.
For this test, the doctor or nurse injects a small amount of a slightly radioactive chemical into the bloodstream. (The amount of radioactivity used is very low and will pass out of the body within a day or so.) The substance settles in areas of damaged bone throughout the skeleton over the course of a couple of hours. Your child then lies on a table for about 30 minutes while a special camera detects the radioactivity and creates a picture of the skeleton. Younger children may be given medicine to help keep them calm or even asleep during the test.
Areas of bone changes appear as hot spots on the skeleton because they attract the radioactivity, but the image isn’t very detailed. If an area lights up on the scan, other imaging tests such as x-rays or CT or MRI scans may be done to get a more detailed look at the area. If leukemia is a possibility, a biopsy of the area may be needed to confirm this.
Last Medical Review: 04/17/2015
Last Revised: 02/03/2016