How I diagnose and treat <i>NPM1</i>-mutated AML

Abstract Mutations of the nucleophosmin (NPM1) gene, encoding for a nucleolar multifunctional protein, occur in approximately one-third adult acute myeloid leukemia (AML). NPM1-mutated AML exhibits unique molecular, pathological, and clinical features, which led to its recognition as distinct entity 2017 World Health Organization (WHO) classification neoplasms. Although WHO criteria diagnosis are well established, distinction from other entities may be difficult. Moreover, percentage blasts required diagnose remains controversial. According European LeukemiaNet (ELN), determining mutational status NPM1 (together with FLT3) is mandatory accurate relapse-risk assessment. mutations ideal targets measurable residual disease (MRD) monitoring, since they specific, frequent, very stable at relapse, do not drive clonal hematopoiesis undetermined significance. MRD monitoring by quantitative polymerase chain reaction NPM1-mutant transcripts, possibly combined ELN genetic-based risk stratification, can guide therapeutic decisions after remission. Furthermore, immunohistochemistry useful selected situations, such sarcoma. Herein, we present 4 illustrative cases that address important issues surrounding biology, diagnosis, therapy this common form leukemia.