Symptoms & Diagnosis
Symptoms of Acute Myeloid Leukemia (AML)
AML can cause symptoms that may initially feel like the flu or other common illnesses. Some of the key symptoms include:
Feeling weak or tired
Fever or frequent infections
Easy bruising or bleeding
Pale skin or a loss of normal skin color
In some cases, AML can also cause less common symptoms, such as lumps of leukemia cells forming in the central nervous system or other areas of the body.
If you are at risk for AML or experience any symptoms, it’s important to talk to your healthcare provider for a proper evaluation. Early diagnosis and treatment can make a significant difference in outcomes.
Diagnosing AML
Accurate testing is crucial for diagnosing and treating AML. Below is an overview of the various tests you may undergo, what they mean, and how they contribute to your diagnosis and treatment plan.
Key Diagnostic Tests for AML
A diagnosis of AML is based on the presence of a high number of myeloid blasts in the bone marrow or blood. Traditionally, if 20% or more of the bone marrow cells are blasts, a diagnosis of AML is made. However, AML can also be diagnosed with fewer blasts if specific genetic mutations or chromosomal abnormalities are present.
Unlike other cancers, AML doesn’t follow traditional staging. Instead, diagnostic testing looks for certain gene mutations and abnormalities that help your care team understand how aggressive your leukemia might be. Your treatment will be guided by a combination of blood tests, bone marrow biopsies, and other exams, with results discussed in detail by your healthcare team.
Common Diagnostic Tests
- Complete Blood Count (CBC) and Blood Tests: These tests check your red blood cells, white blood cells, and platelets, providing insight into your overall health and detecting leukemia cells.
- Bone Marrow Aspirate and Biopsy: A bone marrow sample is collected to confirm the presence of leukemia cells and to identify specific subtypes of AML.
- Flow Cytometry and Immunophenotyping: These specialized tests analyze the proteins on leukemia cells, which help determine the specific characteristics of AML cells.
- Cytogenetic and Molecular Testing: Genetic tests, such as polymerase chain reaction (PCR) and next-generation sequencing (NGS), are performed to detect changes in the genes and chromosomes of leukemia cells. Common genetic abnormalities include FLT3, NPM1, and RUNX1 mutations, which influence treatment decisions.
Genetic and Molecular Assessments
AML is often driven by genetic mutations and chromosomal abnormalities. Testing for these abnormalities is essential for understanding your specific type of AML and predicting how the disease will behave (prognosis). Some common genetic changes tested for include:
Translocations: Rearrangements of parts of chromosomes, such as t(8;21) or inv(16)
Point Mutations: Small changes in a single gene, such as FLT3 mutations, which may influence treatment
Deletions and Insertions: Loss or addition of parts of chromosomes that impact cell growth and function
NGS and fluorescence in situ hybridization (FISH) are frequently used to identify these mutations. Understanding the results of these tests helps tailor your treatment to target the specific genetic profile of your leukemia.
Imaging and Other Tests
In certain cases, imaging tests like CT scans, MRI, or PET scans are done to see if the leukemia has spread outside of the bloodstream to organs like the liver, spleen, or lymph nodes. Imaging can also help detect infections or bleeding that might complicate your care.
If symptoms suggest the leukemia has spread to the brain or spinal cord, a lumbar puncture (spinal tap) may be performed to examine the cerebrospinal fluid for leukemia cells.
Heart Function Tests
Certain chemotherapy treatments used to treat AML can affect heart function. Therefore, you may need heart tests such as:
Echocardiogram: An ultrasound of the heart to check how well it is pumping
Electrocardiogram (ECG/EKG): Measures the electrical activity of the heart and checks for issues like prolonged QTc, which may occur with some treatments
HLA Typing for Stem Cell Transplant
If a stem cell transplant is part of your treatment plan, human leukocyte antigen (HLA) typing will be done to match your tissue type with a potential donor. A successful transplant requires a close match between your HLA proteins and those of the donor.
Organizing Your Health Information
As you navigate your AML diagnosis and treatment, it’s important to stay organized. Here are some tips:
Track Your Test Results: Use online health portals (like MyChart) to keep up with test results and communicate with your care team. However, always discuss results with your doctor before making any conclusions.
Stay Organized: Keep a folder with important documents, including test results, insurance forms, and contact information for your care team.
Get Support: Bring a family member or friend to appointments to help take notes or provide emotional support .
References
Everyday Health. What is Acute Myeloid Leukemia (AML)? Symptoms, Causes, Diagnosis, Treatment, and Prevention. Updated February 2, 2023. Accessed December 1, 2024. https://www.everydayhealth.com/leukemia/acute-myeloid-leukemia-aml-cancer-refractory-relapsed-prognosis-symptoms-treatment-more/
National Cancer Institute. Acute Myeloid Leukemia Treatment (PDQ®)–Patient Version. Updated October 15, 2024. Accessed December 1, 2024. https://www.cancer.gov/types/leukemia/patient/adult-aml-treatment-pdq
National Comprehensive Cancer Network (NCCN). NCCN Guidelines for Patients. Acute Myeloid Leukemia. 2024. Accessed December 1, 2024. https://www.nccn.org/patients/guidelines/content/PDF/aml-patient.pdf
