- Prevalence: NPM1 mutations are found in about 30-35% of AML cases, particularly in AML with normal cytogenetics.
- Mutational Effect: The mutation most commonly involves a frame-shift in exon 12, leading to a cytoplasmic accumulation of the NPM1 protein.
- Prognostic Significance: NPM1 mutations, when occurring without FLT3-ITD (Internal Tandem Duplication), are generally considered to have a favorable prognosis.
- Diagnosis: Diagnosis is typically confirmed using molecular testing (e.g., PCR or sequencing)
