Parameter
| Biomarker | TP53 mutation | Full name | Tumor Protein P53 gene mutation | Molecular Type | Nucleic acid (DNA) |
|---|---|---|---|---|---|
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis, prognosis |
| Disease | Acute Myeloid Leukemia (AML) | Disease Subtypes | / | ||
| Organ | Blood, bone marrow | Test Sample / Technology Platform | Whole blood/bone marrow (genomic sequencing) | ||
| Pathobiological Mechanisms | The encoded cell cycle regulatory transcription factor exhibits abnormal DNA repair function after mutation, leading to uncontrolled cell proliferation. | ||||
| Clinical Availability Status | Clinical validation/Advanced therapies: ELN guidelines recommend early screening; targeted drugs under development. | ||||
| Notes and Dynamics | The results indicate a poor prognosis, with low complete response rate (CRR) and high recurrence rate. The combination of APR-246 and azacitidine demonstrated synergistic therapeutic effects and was granted orphan drug designation. | ||||