Acute myeloid leukemia with NPM1 somatic mutation

Acute myeloid leukemia with NPM1 somatic mutation is an aggressive hematologic malignancy characterized by clonal proliferation and accumulation of immature myeloid blasts in the bone marrow and peripheral blood

Acute myeloid leukemia with NPM1 somatic mutation is an aggressive hematologic malignancy characterized by clonal proliferation and accumulation of immature myeloid blasts in the bone marrow and peripheral blood

Primarily affecting adults, it represents one of the most common genetically defined subtypes of acute myeloid leukemia, frequently presenting with a normal karyotype

Primarily affecting adults, it represents one of the most common genetically defined subtypes of acute myeloid leukemia, frequently presenting with a normal karyotype

Pathophysiologically, acquired frameshift mutations—most often in exon 12 of the nucleophosmin 1 (*NPM1*) gene—disrupt nucleolar localization signals, causing abnormal cytoplasmic accumulation of the NPM1 chaperone protein and triggering leukemogenic gene expression, including aberrant *HOX* family activation

Pathophysiologically, acquired frameshift mutations—most often in exon 12 of the nucleophosmin 1 (*NPM1*) gene—disrupt nucleolar localization signals, causing abnormal cytoplasmic accumulation of the NPM1 chaperone protein and triggering leukemogenic gene expression, including aberrant *HOX* family activation

Pathophysiologically, acquired frameshift mutations—most often in exon 12 of the nucleophosmin 1 (*NPM1*) gene—disrupt nucleolar localization signals, causing abnormal cytoplasmic accumulation of the NPM1 chaperone protein and triggering leukemogenic gene expression, including aberrant *HOX* family activation

Clinically, bone marrow failure results in profound cytopenias that manifest as severe fatigue, recurrent infections, and bleeding tendencies