AML Diagnosis & Testing

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How is AML diagnosed?

Diagnosing acute myeloid leukemia (AML) typically begins with a physical exam to check for bruising, bleeding, infection, or swollen organs. Blood tests, a bone marrow biopsy, and imaging are used to confirm the diagnosis and identify the AML subtype.

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Essential AML Testing

Testing helps identify mutations, determine your AML subtype, assess your risk and prognosis, personalize treatment, and monitor therapy effectiveness.

Testing Methods in AML

Cytogenetic Analysis (or Karyotyping): Testing of blood, bone marrow, or tissue to identify changes in chromosomes.
Fluorescence in situ Hybridization (FISH test): A chromosome test used to identify specific genes or chromosomal changes.
Next-Generation Sequencing (NGS): Technology to sequence DNA or RNA to identify genetic variations associated with diseases or other biological phenomena.
Biomarker Testing (molecular testing): Laboratory testing that identifies certain gene mutations, proteins, chromosomal abnormalities, and/or other molecular changes unique to an individual’s disease.

Common AML Mutations

IDH (Isocitrate Dehydrogenase) Mutations: Mutations in IDH1 or IDH2 are detected in approximately 20% of AML patients.
FLT3 Mutation: FLT3 stands for Fms-like tyrosine kinase. This gene mutation occurs in approximately 30% of AML patients.
NPM1 (Nucleophosmin-1) Mutation: The most common molecular mutation identified in adult AML.
TP53 (tumor protein 53) Mutation: A gene that helps stop the growth of tumors. TP53 is the most frequently mutated gene in human cancers, though mutation rates are low in AML.