Acute myeloid leukaemia: How to combine multiple tools

Area of Science:

• Hematology
• Oncology
• Genetics

Background:

• Acute myeloid leukemia (AML) pathogenesis is complex, often involving mutations in proliferation, survival, and differentiation pathways.
• Genetic aberrations are crucial for understanding AML, guiding prognosis, and developing targeted therapies.
• Significant advancements in genomic landscape and minimal residual disease detection assays have emerged since the 2008 WHO classification.

Purpose of the Study:

• To review common diagnostic tests and procedures for AML.
• To highlight major changes in the 2017 WHO classification of AML.
• To discuss the impact of novel biomarkers and molecular features on AML diagnosis and prognosis.

Main Methods:

• Review of existing literature on AML pathogenesis, diagnosis, and classification.
• Analysis of diagnostic techniques including morphology, immunophenotyping, cytogenetics, and molecular genetic testing.
• Examination of gene expression analysis and next-generation sequencing for biomarker identification.

Main Results:

• Identification of multiple genetic mutations as key drivers in AML pathogenesis.
• Integration of novel molecular features and biomarkers into diagnostic criteria.
• Inclusion of new AML entities and updated prognostic criteria in the 2017 WHO classification.

Conclusions:

• Genetic aberrations are fundamental to AML pathogenesis, prognosis, and therapeutic strategies.
• Advances in molecular diagnostics significantly improve AML detection and risk stratification.
• The 2017 WHO classification incorporates molecular findings, refining AML diagnosis and management.