Parameter
| Biomarker | NPM1 mutation | Full name | Nucleophosmin 1 gene mutation | Molecular Type | Nucleic acid (DNA) |
|---|---|---|---|---|---|
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis, prognosis, MRD monitoring |
| Disease | Acute Myeloid Leukemia (AML) | Disease Subtypes | / | ||
| Organ | Blood, bone marrow | Test Sample / Technology Platform | Whole blood/bone marrow (genomic sequencing, RT-qPCR) | ||
| Pathobiological Mechanisms | The nuclear-cytoplasmic shuttling molecular chaperone protein, when mutated, leads to cytoplasmic mislocalization and abnormal regulation of functions such as ribosome assembly and DNA repair. | ||||
| Clinical Availability Status | Clinical validation/guideline recommendations: Prognostic stratification included in ELN and NCCN guidelines; Core indicators for MRD monitoring. | ||||
| Notes and Dynamics | Single mutations indicate a favorable prognosis, while the presence of FLT3-ITDhigh or IDH1/2 mutations is associated with a poorer prognosis; ATRA+ATO can degrade the mutated protein. | ||||