Chromosome tests
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
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.)
Chest x-rays
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
Chromosome testsNormal human cells have 23 pairs of chromosomes (strands of DNA), each of which is acertain size and looks a certain way under the microscope. But in some types ofleukemia, the cells have changes in their chromosomes.For instance, sometimes 2 chromosomes swap some of their DNA, so that part of onechromosome becomes attached to part of a different chromosome. This change, called atranslocation, can usually be seen under a microscope. Other types of chromosomechanges are also possible. Recognizing these changes can help identify certain types ofacute leukemias and can help determine prognosis (outlook).Some types of leukemia have cells with an abnormal number of chromosomes (instead ofthe 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 morelikely to work if the cells have more than 50 chromosomes and is less likely to work ifthe cells have fewer than 46 chromosomes.Finding these types of chromosome changes with lab tests can be very helpful inpredicting a person’s outlook and response to treatment.Cytogenetics: For this test, leukemia cells are grown in a lab dish and the chromosomesare looked at under a microscope to detect any changes, including missing or extrachromosomes. (Counting the number of chromosomes by cytogenetics provides similarinformation to measuring the DNA index by flow cytometry, as described above.)Cytogenetic testing usually takes about 2 to 3 weeks because the leukemia cells mustgrow in lab dishes for a couple of weeks before their chromosomes are ready to be lookedat under the microscope.Not all chromosome changes can be seen under a microscope. Other lab tests can oftenhelp detect these changes.Fluorescent in situ hybridization (FISH): This is another way to look at chromosomesand genes. It uses pieces of DNA that only attach to specific parts of particularchromosomes. The DNA is linked to fluorescent dyes that can be seen with a specialmicroscope. FISH can find most chromosome changes (such as translocations) that arevisible under a microscope in standard cytogenetic tests, as well as some changes toosmall to be seen with usual cytogenetic testing.FISH can be used to look for specific changes in chromosomes. It can be used on bloodor bone marrow samples. It is very accurate and can usually provide results within acouple of days.Polymerase chain reaction (PCR): This is a very sensitive test that can also find somechromosome changes too small to be seen under a microscope, even if there are very fewleukemia cells in a sample. This test can be very useful in looking for small numbers ofleukemia cells (minimal residual disease, or MRD) during and after treatment that mightnot be detected with other tests.Other blood testsChildren with leukemia will have tests to measure certain chemicals in the blood to checkhow 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 ofleukemia cells or by certain chemotherapy drugs. Tests are also often done to measureblood 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 treatinfections in children with leukemia quickly because their weakened immune systemscan allow infections to spread.Imaging testsImaging tests use x-rays, sound waves, magnetic fields, or radioactive particles to makepictures of the inside of the body. Leukemia doesn’t usually form tumors, so imagingtests aren’t as useful as they are for other types of cancer. But if leukemia is suspected orhas been diagnosed, your child’s doctor may order some of these tests to get a better ideaof the extent of the disease or to look for other problems, such as infections. (For moredetails on imaging tests, see Imaging (Radiology) Tests.)Chest x-raysA chest x-ray can help detect an enlarged thymus or lymph nodes in the chest. If the testresult is abnormal, a computed tomography (CT) scan of the chest may be done to get amore detailed view.Chest x-rays can also help look for pneumonia if your child might have a lung infection.Computed tomography (CT) scanThe CT scan uses x-rays to make detailed, cross-sectional images of the body. Unlike aregular 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 doctorsuspects the leukemia is growing in lymph nodes in the chest or in organs like the spleenor liver. It is also sometimes used to look at the brain and spinal cord, but an MRI scanmay also be used for this.Before the scan, your child may be asked to drink a contrast solution and/or get anintravenous (IV) injection of a contrast dye that helps
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