Table of ContentsView AllTable of ContentsPhysical ExaminationBlood TestsBone Marrow BiopsyCytochemistryGene StudiesOther ProceduresImagingDifferential DiagnosesStagingFrequently Asked QuestionsNext in Leukemia GuideWhat Is Leukemia?
Table of ContentsView All
View All
Table of Contents
Physical Examination
Blood Tests
Bone Marrow Biopsy
Cytochemistry
Gene Studies
Other Procedures
Imaging
Differential Diagnoses
Staging
Frequently Asked Questions
Next in Leukemia Guide
Diagnosis ofleukemiainvolves a number of steps. It often begins with a complete blood count (CBC) and peripheral blood smear. A bone marrow aspiration and biopsy are also done with most types of leukemia.
After diagnosis, the cancer is staged based on factors such as symptoms, the subtype of leukemia, and the number of abnormal cells in the blood or bone marrow.
Additional tests might identify surface markers on the cells (flow cytometry) as well as genetic changes (cytogenetic testing.) With some leukemias, a lumbar puncture (spinal tap), or lymph node biopsy may be needed as well.
There are many different variations of leukemia and an accurate diagnosis is important for choosing the besttreatmentoptions.
Physical Exam and History
The history and physical are the starting point in the diagnosis of leukemia, but they aren’t used alone to make the diagnosis.
Your doctor will ask you aboutsymptoms of leukemiaandrisk factors forthe disease that you may have. A physical examination may reveal signs of possible leukemia, such as lymph node swelling, pale skin, or bruising.These issues can occur with many medical conditions and they aren’t specifically diagnostic of leukemia.
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A CBC and peripheral smear are blood tests that can show abnormalities characteristic of leukemia and are also used to guide further evaluation.
Complete Blood Cell Count and Peripheral Blood Smear
There is often an increase in WBCs with leukemia, which may sometimes be associated with a decrease in RBC and platelet count. In some cases, acute leukemia may also be associated with adecreasein all of the types of blood cells—a condition referred topancytopenia.
A CBC can determine if the WBC number is low or high, but it doesn’t give enough information about the type of WBCs that are increased or decreased. A CBC also can’t identify blasts (immature WBCs) in the peripheral blood—these cells are normally only found in significant numbers in the bone marrow.
With a peripheral smear, a sample of blood is spread on a microscope slide and dye is added for microscopic visualization.
A peripheral smear can provide more details about the type of WBCs in the blood.
Typical findings (these can vary) on a CBC and blood smear for the four main types of leukemia include:
Bone Marrow Aspiration and Biopsy
The bone marrow is the source of all of the blood cells found in the peripheral blood, as well as the cancer cells in leukemia. With most types of leukemia, blood tests are not enough to conclusively diagnose the disease, and abone marrow aspiration and biopsyare done.
During a bone marrow aspiration, a long, thin needle is inserted into the bone marrow in the hip (or sometimes the breastbone) after the skin is numbed locally with lidocaine. After a sample of the bone marrow is aspirated, a biopsy sample is also taken.
With CLL, the diagnosis can sometimes be made based on blood tests, but a bone marrow aspiration can be helpful in determining how advanced the cancer is.
In the normal bone marrow, between 1 and 5% of cells are blast cells (immature WBCs) that are expected to mature into those normally found in the blood.
A diagnosis of ALL can be made if at least 20% of the cells are blasts (lymphoblasts).With AML, a diagnosis can be made if at least 20% blasts (myeloblasts) are seen, but also with a smaller blast percentage if specific chromosome changes are found.
If leukemia is diagnosed, the ratio of leukemia cells to healthy blood-forming cells can also be an important part of the diagnostic process.
In addition to looking at the number of different cells present in the bone marrow, doctors also look at the pattern of the cells. For example, with CLL, the prognosis of the disease is better if the cancer cells are found in groups (nodular or interstitial pattern) than if they are found diffusely scattered around the bone marrow.
Cytochemistry looks at how the cells in the bone marrow take up certain stains, and it can be helpful in distinguishing ALL from AML. Tests can include both flow cytometry and immunohistochemistry.
With acute leukemias (both ALL and AML), these studies can be helpful in determining the subtype of the disease, and with ALL, tests can determine whether leukemia involvesT cells or B cells.
Flow cytometry can also be used to determine the amount of DNA in leukemia cells, which can be helpful in planning treatment. ALL cells that have more DNA than an average cell tend to respond better to chemotherapy.
Chromosome and Gene Studies
Leukemia cells very often have changes in the chromosomes or genes found in the DNA of each cell. Each of our cells normally has 46 chromosomes that contain many genes. Some studies look primarily at chromosomal changes, whereas others look for changes in specific genes.
Cytogenetics
Cytogenetics involves microscopic examination of the chromosomes of cancer cells.
The cancer cells need time to be grown in the lab after being retrieved, so the results of these studies are often not available for two to three weeks after a bone marrow biopsy is done.
Chromosomal changes that may be seen in the leukemia cells include:
Cytogenetics can help with planning treatment. For example, in ALL, leukemia cells that have more than 50 chromosomes respond better to treatment.
Fluorescent In Situ Hybridization (FISH)
Fluorescent in situ hybridization (FISH) is a procedure in which special dyes are used to look for changes in specific genes.
With CML, this test can be used to look forpiecesof the BCR/ABL1 fusion gene on chromosome 22 (Philadelphia chromosome).
Roughly 95% of people with CML will have this shortened chromosome 22, and most of the other 5% will have the abnormal BCR/ABL1 fusion gene on further testing. The Philadelphia chromosome is also an important finding in some people who have ALL.
With CLL, cytogenetics is less helpful, and FISH and PCR are more important for finding genetic changes. There are many genetic abnormalities that may be seen with these studies, including deletions in the long arm of chromosome 13 (in half of the people with the disease), an extra copy of chromosome 12 (trisomy 12), deletions in the 17th and 11th chromosome, and specific mutations in genes such as NOTCH1, SF3B1, and more.
Polymerase Chain Reaction (PCR)
Like FISH, polymerase chain reaction (PCR) can find changes in chromosomes and genes that can’t be identified through cytogenetics. PCR is also helpful in finding changes that are present in just a few, but not all, of the cancer cells.
PCR is very sensitive for finding the BCR/ABL gene, even when other signs of CML aren’t found on chromosome testing.
In addition to evaluating WBCs in the blood and bone marrow, other procedures are sometimes done.
Lumbar Puncture (Spinal Tap)
With some types of leukemia, a spinal tap (lumbar puncture) may be done to look for the presence of leukemia cells that have spread into the cerebrospinal fluid (CSF) surrounding the brain and spinal cord.It may be done for those with ALL, as well as people with AML who have any neurological symptoms suggesting this spread.
During a lumbar puncture, a person lies on a table on their side with knees up and head down. After cleaning and numbing the area, a doctor inserts a long thin needle into the lower back, between the vertebrae, and into the space surrounding the spinal cord. Fluid is then withdrawn and sent to a pathologist to be analyzed.
Lymph Node Biopsy
Lymph node biopsies, in which part or all of a lymph node are removed, are done infrequently with leukemia.A lymph node biopsy may be done with CLL if large lymph nodes are present, or if it’s thought that CLL may have transformed into a lymphoma.
Imaging tests are not usually used as a diagnostic method for leukemia, as blood-related cancers like leukemia don’t often form tumors. It may be helpful, however, in staging some leukemias, such as CLL.
X-Rays
X-rays, such as a chest X-ray or bone X-ray are not used to diagnose leukemia but may give the first signs that something is wrong. An X-ray may show enlargement of lymph nodes orosteopenia(thinning of the bone).
Computed Tomography (CT Scan)
ACT scanuses a series of X-rays to create a 3-dimensional picture of the inside of the body. CT may be helpful in looking at nodes in the chest or other regions of the body, as well as noting enlargement of the spleen or liver.
Magnetic Resonance Imaging (MRI)
AnMRIuses magnets to create a picture of the inside of the body and does not involve radiation. It may be helpful in leukemias that involve the brain or spinal cord.
Positron Emission Tomography (PET/CT or PET/MRI)
Differential Diagnosis
There are some diseases that may resemble leukemia.
Some of these include:
Since many leukemias do not form solid masses, staging (with the exception of CLL) is very different from that of solid tumors such as breast cancer or lung cancer. Staging differs between thedifferent types of leukemia.
A number of factors are taken into consideration in assigning a stage, such as the number of immature WBCs found in the blood or bone marrow, tumor markers, chromosome studies, and more.
People with the same kind of leukemia and the same stage may have very different responses to therapy, as well as different prognoses.
Chronic Lymphocytic Leukemia (CLL)
ForCLL, there are a number of different staging systems that may be used. Most common is the Rai system in which a stage between 0 and 4 is assigned based on the presence of several findings:
Based on these stages, the cancers are then separated into low, intermediate, and high-risk categories.
In contrast, the Binet system used in Europe separates these leukemias into only three stages:
Acute Lymphocytic Leukemia (ALL)
ForALL,staging is different, as the disease does not form tumor masses that extend incrementally from an original tumor.
ALL will likely spread to other organs even before it is detected, so rather than using traditional staging methods, physicians often factor in the subtype of ALL and the person’s age.
This usually involves cytogenetic tests, flow cytometry, and other lab tests.
Acute Myelogenous Leukemia (AML)
An older staging system, the French-American-British (FAB) classification, classified AML into eight subtypes, M0 through M7, based on the microscopic appearance of the cells.
The World Health Organization (WHO) developed a different system for AML staging with the purpose of more closely predicting the prognosis of the disease.
Chronic Myelogenous Leukemia (CML)
ForCML, the presence of an increased number of mature cells belonging to the myeloid lineage (like neutrophils) is common. Staging is determined based on the number of immature myeloid cells at different stages of maturation:
If leukemia is suspected, a complete blood count (CBC) and a peripheral blood smear would be performed. If white blood cells (WBCs) are elevated and/or the peripheral blood smear shows abnormalities in immature blood cells calledblasts, a needle biopsy of bone marrow from the hip bone can check for leukemia cells to confirm the diagnosis.
Leukemia symptoms include persistentlyswollen lymph nodes,enlarged liverorspleen, chronic fatigue, recurrent nosebleeds, easy bruising or bleeding, night sweats, bone pain, unintentional weight loss, and tiny spots on the skin calledpetechiae.
A CBC paired with a peripheral blood smear and another diagnostic test calledflow cytometrymay provide definitive evidence of leukemia. Flow cytometry is especially useful as it uses lasers to identify specific cells, including leukemia cells.Some forms of leukemia stay in the bone marrow and do not circulate in the blood. This is why a bone marrow biopsy may be needed.
Fluorescent in situ hybridization (FISH)is a test that “maps” the genetic material of human cells, including genetic changes associated with cancer. FISH can detect chromosome changes specific to different types of leukemia.
Alumbar puncture(spinal tap) is used to check if leukemic cells have moved into the fluid surrounding the brain and spinal cord. It is commonly performed in people with acute lymphocytic leukemia (ALL) and acute myeloid leukemia (AML) who have neurological symptoms, such as visual disturbances orfacial palsies.
For leukemia, the relative 5-year survival rate is 65%, meaning that 65% will liveat leastfive years following their diagnosis. Death rates are highest among people 75 and over.
26 SourcesVerywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.National Cancer Institute.Leukemia—Patient Version.Puckett Y, Chan O.Cancer, Acute Lymphocytic Leukemia (ALL). In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing.National Cancer Institute.Adult Acute Myeloid Leukemia Treatment (PDQ): Health Professional Version.Davis AS, Viera AJ, Mead MD.Leukemia: an overview for primary care.Am Fam Physician.National Cancer Institute.Chronic Lymphocytic Leukemia Treatment (PDQ®)–Health Professional Version.Leukemia & Lymphoma Society.Diagnosis.American Cancer Society.How Is Chronic Lymphocytic Leukemia Diagnosed?American Cancer Society.Tests used on biopsy and cytology specimens to diagnose cancer.Patnaik MM, Tefferi A.Cytogenetic and molecular abnormalities in chronic myelomonocytic leukemia. Blood Cancer J. 2016;6:e393. doi:10.1038/bcj.2016.5National Cancer Institute.Chronic Myelogenous Leukemia Treatment (PDQ®)–Health Professional Version.American Cancer Society.Tests for acute myeloid leukemia.American Cancer Society.Types of biopsies used to look for cancer.American Cancer Society.Viruses that can lead to cancer.American Cancer Society.What Are Myelodysplastic Syndromes?Tefferi A, Barbui T.Polycythemia vera and essential thrombocythemia: 2017 update on diagnosis, risk-stratification, and management. Am J Hematol. 2017;92(1):94-108. doi:10.1002/ajh.24607National Heart, Lung, and Blood Institute.Aplastic Anemia.American Cancer Society.How Is Chronic Myelomonocytic Leukemia Staged?National Cancer Institute.Chronic lymphocytic leukemia treatment - patient version.American Cancer Society.How Is chronic lymphocytic leukemia staged?American Society of Clinical Oncology.Leukemia - Acute Lymphocytic - ALL: Subtypes and Classification.American Cancer Society.Acute Myeloid Leukemia (AML) Subtypes and Prognostic Factors.American Cancer Society.Phases of Chronic Myeloid Leukemia.Lyengar V, Shimanovsky A.Leukemia. In:StatPearls [Internet].Ouyang G, Xu Z, Jiang D, et al.Clinically useful flow cytometry approach to identify immunophenotype in acute leukemia.J Int Med Res.2019;47(4):1483-92. doi:10.1177/0300060518819637Chen J, Huang C, Zhu Y, et al.Identification of similarities and differences between myeloid and lymphoid acute leukemias using a gene-gene interaction network.Pathol Res Pract. 2015;211(10):789-96. doi:10.1016/j.prp.2015.07.007National Cancer Institute Surveillance, Epidemiology, and End Results Program.Cancer stat facts: leukemia.Additional ReadingNational Cancer Institute.Childhood Adult Lymphoblastic Leukemia Treatment (PDQ): Health Professional Version.
26 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.National Cancer Institute.Leukemia—Patient Version.Puckett Y, Chan O.Cancer, Acute Lymphocytic Leukemia (ALL). In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing.National Cancer Institute.Adult Acute Myeloid Leukemia Treatment (PDQ): Health Professional Version.Davis AS, Viera AJ, Mead MD.Leukemia: an overview for primary care.Am Fam Physician.National Cancer Institute.Chronic Lymphocytic Leukemia Treatment (PDQ®)–Health Professional Version.Leukemia & Lymphoma Society.Diagnosis.American Cancer Society.How Is Chronic Lymphocytic Leukemia Diagnosed?American Cancer Society.Tests used on biopsy and cytology specimens to diagnose cancer.Patnaik MM, Tefferi A.Cytogenetic and molecular abnormalities in chronic myelomonocytic leukemia. Blood Cancer J. 2016;6:e393. doi:10.1038/bcj.2016.5National Cancer Institute.Chronic Myelogenous Leukemia Treatment (PDQ®)–Health Professional Version.American Cancer Society.Tests for acute myeloid leukemia.American Cancer Society.Types of biopsies used to look for cancer.American Cancer Society.Viruses that can lead to cancer.American Cancer Society.What Are Myelodysplastic Syndromes?Tefferi A, Barbui T.Polycythemia vera and essential thrombocythemia: 2017 update on diagnosis, risk-stratification, and management. Am J Hematol. 2017;92(1):94-108. doi:10.1002/ajh.24607National Heart, Lung, and Blood Institute.Aplastic Anemia.American Cancer Society.How Is Chronic Myelomonocytic Leukemia Staged?National Cancer Institute.Chronic lymphocytic leukemia treatment - patient version.American Cancer Society.How Is chronic lymphocytic leukemia staged?American Society of Clinical Oncology.Leukemia - Acute Lymphocytic - ALL: Subtypes and Classification.American Cancer Society.Acute Myeloid Leukemia (AML) Subtypes and Prognostic Factors.American Cancer Society.Phases of Chronic Myeloid Leukemia.Lyengar V, Shimanovsky A.Leukemia. In:StatPearls [Internet].Ouyang G, Xu Z, Jiang D, et al.Clinically useful flow cytometry approach to identify immunophenotype in acute leukemia.J Int Med Res.2019;47(4):1483-92. doi:10.1177/0300060518819637Chen J, Huang C, Zhu Y, et al.Identification of similarities and differences between myeloid and lymphoid acute leukemias using a gene-gene interaction network.Pathol Res Pract. 2015;211(10):789-96. doi:10.1016/j.prp.2015.07.007National Cancer Institute Surveillance, Epidemiology, and End Results Program.Cancer stat facts: leukemia.Additional ReadingNational Cancer Institute.Childhood Adult Lymphoblastic Leukemia Treatment (PDQ): Health Professional Version.
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
National Cancer Institute.Leukemia—Patient Version.Puckett Y, Chan O.Cancer, Acute Lymphocytic Leukemia (ALL). In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing.National Cancer Institute.Adult Acute Myeloid Leukemia Treatment (PDQ): Health Professional Version.Davis AS, Viera AJ, Mead MD.Leukemia: an overview for primary care.Am Fam Physician.National Cancer Institute.Chronic Lymphocytic Leukemia Treatment (PDQ®)–Health Professional Version.Leukemia & Lymphoma Society.Diagnosis.American Cancer Society.How Is Chronic Lymphocytic Leukemia Diagnosed?American Cancer Society.Tests used on biopsy and cytology specimens to diagnose cancer.Patnaik MM, Tefferi A.Cytogenetic and molecular abnormalities in chronic myelomonocytic leukemia. Blood Cancer J. 2016;6:e393. doi:10.1038/bcj.2016.5National Cancer Institute.Chronic Myelogenous Leukemia Treatment (PDQ®)–Health Professional Version.American Cancer Society.Tests for acute myeloid leukemia.American Cancer Society.Types of biopsies used to look for cancer.American Cancer Society.Viruses that can lead to cancer.American Cancer Society.What Are Myelodysplastic Syndromes?Tefferi A, Barbui T.Polycythemia vera and essential thrombocythemia: 2017 update on diagnosis, risk-stratification, and management. Am J Hematol. 2017;92(1):94-108. doi:10.1002/ajh.24607National Heart, Lung, and Blood Institute.Aplastic Anemia.American Cancer Society.How Is Chronic Myelomonocytic Leukemia Staged?National Cancer Institute.Chronic lymphocytic leukemia treatment - patient version.American Cancer Society.How Is chronic lymphocytic leukemia staged?American Society of Clinical Oncology.Leukemia - Acute Lymphocytic - ALL: Subtypes and Classification.American Cancer Society.Acute Myeloid Leukemia (AML) Subtypes and Prognostic Factors.American Cancer Society.Phases of Chronic Myeloid Leukemia.Lyengar V, Shimanovsky A.Leukemia. In:StatPearls [Internet].Ouyang G, Xu Z, Jiang D, et al.Clinically useful flow cytometry approach to identify immunophenotype in acute leukemia.J Int Med Res.2019;47(4):1483-92. doi:10.1177/0300060518819637Chen J, Huang C, Zhu Y, et al.Identification of similarities and differences between myeloid and lymphoid acute leukemias using a gene-gene interaction network.Pathol Res Pract. 2015;211(10):789-96. doi:10.1016/j.prp.2015.07.007National Cancer Institute Surveillance, Epidemiology, and End Results Program.Cancer stat facts: leukemia.
National Cancer Institute.Leukemia—Patient Version.
Puckett Y, Chan O.Cancer, Acute Lymphocytic Leukemia (ALL). In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing.
National Cancer Institute.Adult Acute Myeloid Leukemia Treatment (PDQ): Health Professional Version.
Davis AS, Viera AJ, Mead MD.Leukemia: an overview for primary care.Am Fam Physician.
National Cancer Institute.Chronic Lymphocytic Leukemia Treatment (PDQ®)–Health Professional Version.
Leukemia & Lymphoma Society.Diagnosis.
American Cancer Society.How Is Chronic Lymphocytic Leukemia Diagnosed?
American Cancer Society.Tests used on biopsy and cytology specimens to diagnose cancer.
Patnaik MM, Tefferi A.Cytogenetic and molecular abnormalities in chronic myelomonocytic leukemia. Blood Cancer J. 2016;6:e393. doi:10.1038/bcj.2016.5
National Cancer Institute.Chronic Myelogenous Leukemia Treatment (PDQ®)–Health Professional Version.
American Cancer Society.Tests for acute myeloid leukemia.
American Cancer Society.Types of biopsies used to look for cancer.
American Cancer Society.Viruses that can lead to cancer.
American Cancer Society.What Are Myelodysplastic Syndromes?
Tefferi A, Barbui T.Polycythemia vera and essential thrombocythemia: 2017 update on diagnosis, risk-stratification, and management. Am J Hematol. 2017;92(1):94-108. doi:10.1002/ajh.24607
National Heart, Lung, and Blood Institute.Aplastic Anemia.
American Cancer Society.How Is Chronic Myelomonocytic Leukemia Staged?
National Cancer Institute.Chronic lymphocytic leukemia treatment - patient version.
American Cancer Society.How Is chronic lymphocytic leukemia staged?
American Society of Clinical Oncology.Leukemia - Acute Lymphocytic - ALL: Subtypes and Classification.
American Cancer Society.Acute Myeloid Leukemia (AML) Subtypes and Prognostic Factors.
American Cancer Society.Phases of Chronic Myeloid Leukemia.
Lyengar V, Shimanovsky A.Leukemia. In:StatPearls [Internet].
Ouyang G, Xu Z, Jiang D, et al.Clinically useful flow cytometry approach to identify immunophenotype in acute leukemia.J Int Med Res.2019;47(4):1483-92. doi:10.1177/0300060518819637
Chen J, Huang C, Zhu Y, et al.Identification of similarities and differences between myeloid and lymphoid acute leukemias using a gene-gene interaction network.Pathol Res Pract. 2015;211(10):789-96. doi:10.1016/j.prp.2015.07.007
National Cancer Institute Surveillance, Epidemiology, and End Results Program.Cancer stat facts: leukemia.
National Cancer Institute.Childhood Adult Lymphoblastic Leukemia Treatment (PDQ): Health Professional Version.
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Leukemia: Symptoms, Stages, Treatment, and Prognosis
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