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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AML Diagnosis Disparities | Factors Impacting Underrepresented Racial and Ethnic Groups
Testing helps identify mutations, determine your AML subtype, assess your risk and prognosis, personalize treatment, and monitor therapy effectiveness.
- 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.
- 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.
Will help you understand the importance of essential biomarker testing before key decisions are made in your care—including following a reoccurrence.
Topics:
- Understanding Testing in AML
- AML Treatment Decisions
Provides actionable advice and downloadable materials to help you communicate clearly and effectively with your AML healthcare team.
Topics:
- AML Basics: What You Need to Know
- AML Treatment Approaches
- Planning for Your Doctor’s Office Visit
