Table 2.
Key biomarkers in acute myeloid leukemia (AML) with their types, clinical significance, and associated subtypes or features.
| Biomarker | Type | Clinical significance | Associated AML subtypes/features |
|---|---|---|---|
| PML-RARA | Fusion gene (t(15;17)) | Diagnostic marker for APL; excellent response to ATRA + ATO | APL (M3 subtype) |
| AML1-ETO | Fusion gene (t(8;21)) | Good prognosis; altered if c-Kit mutated | AML-M2, core binding factor AML |
| CD34 | Surface glycoprotein marker | Linked to unfavourable prognosis, less complete response, and increased relapse risk. | M0, M1, M2; mostly absent in APL |
| NPM1 | Nucleolar protein mutation | Favorable if FLT3-ITD−; useful for MRD monitoring | M4/M5, Normal Karyotype AML |
| FLT3-ITD/TKD | Tyrosine kinase mutations | Poor prognosis with FLT3-ITD; targetable with TKIs | Normal karyotype AML; co-mutates with NPM1 |
| TP53 | Tumor suppressor mutation | Very poor prognosis; high relapse; drug resistance | Complex karyotype AML, therapy-related AML |
| IDH1/2 | Metabolic enzyme mutations | Epigenetic dysregulation; emerging MRD markers; drug-targetable | Normal karyotype AML; often co-mutated with NPM1 |
This table summarizes diagnostic, prognostic, and therapeutic markers commonly used in AML risk stratification and treatment guidance.