Parameter
| Biomarker | DNMT3A mutation | Full name | DNA Methyltransferase 3 Alpha gene mutation | Molecular Type | Nucleic acid (DNA) |
|---|---|---|---|---|---|
| Molecular Formula | Molecular Weight | Core Functional Dimensions | Susceptibility, prognosis, therapeutic Targets | ||
| Disease | Acute Myeloid Leukemia (AML) | Disease Subtypes | / | ||
| Organ | Blood, bone marrow | Test Sample / Technology Platform | Whole blood/bone marrow (genomic sequencing) | ||
| Pathobiological Mechanisms | Catalyze de novo DNA methylation, mutations lead to hypomethylation of hematopoietic stem cell-specific genes, thereby blocking cell differentiation. | ||||
| Clinical Availability Status | Clinically validated/Targeted therapy: Common mutations in normal karyotype AML. | ||||
| Notes and Dynamics | R882 site mutation is the most common, indicating poor prognosis; demethylating agents such as decitabine show better therapeutic response. | ||||