Diagnosis of leukemia
The diagnostic process of leukemia usually begins with a visit to your family doctor or when the result of a routine examination suggests a blood disorder. Your doctor will ask you about the symptoms you are experiencing and may be doing a physical exam. Based on this information, your doctor may direct you to a specialist or prescribe exams to check for leukemia or other health problems.
The diagnostic process may seem long and discouraging. It's normal to worry, but try not to forget that other medical conditions can cause symptoms similar to those of leukemia. It is important that the care team eliminates any other possible cause of the health problem before making a diagnosis of leukemia.
When the symptoms are severe, the diagnostic process of acute leukemia can be done quickly, the person being admitted to the hospital to receive treatment quickly.
The following tests are commonly used to exclude or diagnose leukemia. Many tests to diagnose cancer are also used to determine the stage, which is how far the disease has progressed. Your doctor may also take other exams to check your health condition and help plan your treatment.
Diagnostic tests for staging and others
Medical History and physical examination
Complete blood formula (FSC)
Blood Biochemical Analyses
bleeding and coagulation factors
Cytochemistry
Immunophenotyping
Cytogenetic and Molecular Studies
Bone marrow puncture and biopsy
Lumbar puncture
Biopsy of a lymph node
Blood Biochemical Analyses
Chest X-Ray
CT Scan (CT)
Magnetic resonance imaging (MRI)
Ultrasound
Medical History and physical examination
Your medical history consists of a review of your symptoms, risk factors and all the medical events and disorders you may have experienced in the past. By noting your medical history, your doctor will ask you questions about your personal history of:
symptoms suggesting leukemia;
Exposure to high doses of radiation;
Genetic syndromes, such as Down syndrome, Fanconi anemia, telangiectasia ataxia and Bloom syndrome;
exposure to benzene;
Chemotherapy or previous radiotherapy;
Blood disorders;
Viral infections.
Your doctor may also ask you questions about your family history of leukemia.
The physical exam allows your doctor to look for any signs of leukemia. During the physical exam, your doctor may:
Take your vital signs to see if you are not having a fever, if you are not breathless or if your heartbeats are fast;
Check to see if your skin is pale or not bruised;
Palpate areas of your neck, armpits (axillary) and groin (inguinal) to see if there are swollen lymph nodes;
Examine your mouth to see if it is infected and whether your gums are bleeding or swollen;
Palpate your abdomen to see if any organs are swollen;
Examine your skeleton to see if it is sensitive or painful.
Learn more about the physical exam.
Complete blood formula (FSC)
The Complete Blood formula (FSC) is used to evaluate the quantity and quality of white blood cells, red blood cells and platelets. Leukemia as well as other ailments can make the number of blood cells abnormal.
Immature blood cells, called leukemic or blast cells, are usually not observed in blood, so doctors suspect leukemia if there are blasts or if the blood cells appear abnormal.
Learn more about the complete blood formula (FSC).
Blood Biochemical Analyses
In a blood biochemical analysis, the rate of chemical substances in the blood is measured. It allows to evaluate the quality of the functioning of certain organs and also to detect anomalies. It helps doctors to detect liver or kidney problems caused by the spread of leukemic cells. It can also help doctors establish the stage of leukemia.
The rate of these substances may be higher than normal in the presence of leukemia:
Blood urea nitrogen
Creatinine
Phosphate
LDH (LDH)
alanine aminotransferase (ALT)
Serum oxaloacetic-oxalacétique transaminase (SGOT)
Uric acid
Learn more about biochemical blood tests.
bleeding and coagulation factors
These are analyses that measure blood clotting factors to check the body's ability to coagulate blood. Blood clotting factor levels may be abnormal in a person with leukemia. These factors are measured by the following tests:
Fibrinogen Rate
Quick Time (TQ)
Cephalin Time (TC)
International Standard Report (RIN)
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Cytochemistry
In Cytochemistry, dyes are used to identify tissue structures and components of blood or bone marrow cells. There are dyes that are attracted to substances present in certain types of leukemic cells, or blasts. The resulting coloration can be observed under a microscope. The cytochemistry helps doctors determine the type of cells present.
Immunophenotyping
Immunophenotyping is the study of proteins expressed by cells. It is used to establish the type or subtype of leukemia.
Immunophenotyping is based on a very specific antigen-antibody reaction to identify proteins in tissues or cells. Monoclonal antibodies labelled with a fluorescent substance or a specific enzyme that bind only to specific antigens (proteins) are used. The fluorescent marker and the marker enzyme allow doctors to observe leukemic cells, also known as blasts.
Immunohistochemistry and Flow cytometry are the 2 most commonly used methods of immunophenotyping leukemia.
Immunohistochemistry
In immunohistochemistry, the microscope is used to observe the immunoperoxidase marking. It also allows doctors to examine the cells and what surrounds them.
Flow cytometry
Flow cytometry is a technique for sorting and classifying cells using fluorescent markers present on their surface. The cells are exposed to a laser which makes them emit a measured and analyzed light by computer. Flow cytometry allows doctors to observe many antibodies at once and to collect data quickly in thousands of cells present in a single sample.
Flow cytometry helps define the unique characteristics of leukemic cells, or blasts. These characteristics can help physicians establish a prognosis and measure response to treatment based on the minimal residual disease (MRM). MRM refers to the presence of blasts in the bone marrow that cannot be found using standard laboratory tests, such as microscopy, but rather with more sensitive tests such as flow cytometry and chain amplification by Polymerase (PCR).
Cytogenetic and Molecular Studies
Cytogenetics is the analysis of chromosomes in a cell, including their number, size, shape and layout.
Cytogenetic karyotyping studies reveal chromosomal anomalies, which help physicians confirm that a person has leukemia and determine what type or subtype of leukemia it is. The results of cytogenetic studies also help physicians plan treatment and predict the degree of treatment effectiveness.
Significant chromosomal anomalies can be detected by observing the cells under a microscope. But most of the changes in DNA need to be analyzed more closely in other molecular studies including fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR).
Fluorescence in situ hybridization (FISH) is a molecular genetic test that identifies chromosomal anomalies and other genetic changes in cancer cells, or blasts. Special DNA probes marked with fluorescent dyes are used. FISH makes it possible to differentiate between leukemias which are similar but whose genetic anomalies differ and which may therefore have to be treated differently.
Polymerase chain reaction (PCR) is a method used to produce many copies of a particular gene segment in order to test it in the laboratory. The PCR is used to detect mutations, reversals, or deletions in DNA that are related to certain types of leukemia. It is useful for diagnosing and determining the prognosis of a specific type of leukemia.
Bone marrow puncture and biopsy
In a bone marrow puncture and biopsy, bone marrow cells are taken for laboratory analysis. The pathology report from the laboratory will confirm whether leukemic cells are present in the sample and if so, what type of leukemia it is.
Learn more about bone marrow puncture and biopsy.
Lumbar puncture
The lumbar puncture, or spinal Tap, is used to collect a small amount of cerebrospinal fluid (CSF) in the space surrounding the spine and which will be examined under a microscope. The CSF surrounds the brain and the spinal cord.
Lumbar puncture is used to determine if the cancer has spread to the cerebrospinal fluid.
Learn more about the lumbar puncture.
Biopsy of a lymph node
Biopsy of a lymph node is a type of surgical biopsy. It is called an excisional biopsy since the lymph node is completely removed. Sometimes it is not able to remove it completely: a part of the ganglion is removed during a biopsy by drilling. The Doctors (pathologists) then examine it under a microscope to see if there are cancer cells, to determine the type of cancer and how fast the cancer cells develop.
Learn more about the surgical biopsy.
Chest X-Ray
In an X-ray, low-dose radiation is used to produce images of body structures on film. It is used to check whether:
The lymph nodes located in the centre of the thorax (mediastinal ganglia) are swollen;
The thymus is swollen;
Fluid accumulated between the lungs and the walls of the thorax (pleural effusion);
There is an infection of the lungs (pneumonia).
Learn more about chest X-ray.
Ct
In a CT scan, specific X-ray equipment is used to produce 3-dimensional images and cuts of organs, tissues, bones and blood vessels of the body. A computer assembles the pictures in detailed images.
CT is sometimes used to observe the spleen and liver to see if they are larger than normal, or swollen. A CT can also be done to check whether the lymph nodes around the heart, near the trachea or in the back part of the abdomen are swollen.
Learn more about TDM.
Magnetic resonance Imaging
In magnetic resonance imaging (MRI), powerful magnetic forces and radio-electric waves are used to produce cutting images of the body's organs, tissues, bones and blood vessels. A computer assembles images into 3-dimensional snapshots.
Doctors most often use MRI when they think leukemia has spread to the brain.
Learn more about MRI.
Ultrasound
During an ultrasound, high frequency sound waves are used to produce images of the body structures. Ultrasound can be used to check whether internal organs, such as kidneys, liver or spleen, are affected by leukemia.
Learn more about ultrasound.
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Questions to ask your healthcare team
Learn more about the diagnosis. To make the right decisions for you, ask questions about the diagnosis to your healthcare team.
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