Mechanism of Pathway: Considerations of Cytogenetic and Molecular Mutation Status for Patients with Acute Myeloid Leukemia: A Deeper Look at the Role of Diagnostic and Ongoing Testing Across the Care Continuum

Highlights

  • The combination of cytogenetic information provided by karyotype analysis and the identification of molecular abnormalities is crucial to the management of acute myeloid leukemia (AML), as it may inform treatment strategies and it provides invaluable prognostic information regarding remission rates, relapse risk, and overall survival outcomes
  • FLT3-ITD, ASXL1, RUNX1, TP53, and KIT mutations have been linked to poor prognosis
  • While the evidence is mixed for the prognostic value of FLT3-TKD (~7% of patients), numerous studies have demonstrated the negative prognostic influence of FLT3-ITD (~25% of patients)
  • AML is characterized by clonal evolution, and FLT3 mutation status may change between initial treatment and relapse. It may be important to perform genetic testing multiple times over the care continuum
Mechanism of Pathway: Considerations of Cytogenetic and Molecular Mutation Status for Patients with Acute Myeloid Leukemia: A Deeper Look at the Role of Diagnostic and Ongoing Testing Across the Care Continuum

Acute myeloid leukemia (AML) is a heterogeneous disease that is characterized by uncontrolled proliferation of undifferentiated myeloid progenitors. While these leukemic blasts accumulate in the bone marrow and peripheral blood, impairment of normal hematopoiesis may lead to a reduction in the number of differentiated myeloid cells (granulocytes, neutrophils, monocytes, erythrocytes, megakaryocytes). Associated symptoms and consequences include anemia, bleeding, and an increased risk for infection.