Background & Objective: Acute Myeloid Leukemia (AML) is characterized by the
accumulation of ≥20% myeloid premature blast cells in the bone marrow and they are most often
found in the peripheral blood. AML is generally classified based on either French-American-British
(FAB) or World Health Organization (WHO) systems. For better clinical management, cytogenetic
finding in AML is necessary and in patients with normal karyotypes - molecular, epigenetic and
proteomic biomarkers are very important in choosing which drugs to prescribe. Mutations of certain
genes like NPM1, FLT3, CEBPA, RUNX1 and MLL play a crucial role in the risk management and
clinical stratification of AML patients. We reviewed the literature for the current trends of clinical
practice based on laboratory based diagnostic tests in AML.
Outcome and Result: We listed in AML chromosomal aberrations (translocations, fusions or
RUNX1, CBFB, MYHI1, MLL, EVI1, PML-RARA), genes and mutations (NPM1, FLT3, CEPBA,
MLL) epigenetic factors (DNMT34, TET2) and proteomic biomarkers (PTP, PTK, PIP) and
analysed how on the basis of these factors medical risk was stratified and accordingly managed.
Conclusion: AML is genetically and functionally a heterogenous malignant disease. In the western
world, leukemia is one of the most common among all cancers. India is ranked 3rd in cancer disease
after United States of America and China. Cytogenetic analysis, molecular/proteomic biomarkers
and epigenetic factors assist in determining the management strategies and prognosis of the disease.
A number of targeted drugs in pre-clinical and clinical trials based on molecular factors and
epigenetic mechanisms have been reported to have promising results in AML patients.