Myeloid sarcoma with NPM1 mutation may be clinically and genetically distinct from AML with NPM1 mutation: a study from the Bone Marrow Pathology Group

Abstract

Myeloid sarcoma (MS) is currently considered equivalent to de novo acute myeloid leukemia (AML); however, the relationship between these entities is poorly understood. This retrospective multi-institutional cohort study compared 43 MS with NPM1 mutation to 106 AML with NPM1 mutation. Compared to AML, MS had more frequent cytogenetic abnormalities including complex karyotype (p =.009 and p =.007, respectively) and was enriched in mutations of genes involved in histone modification, including ASXL1 (p =.007 and p =.008, respectively). AML harbored a higher average number of gene mutations (p =.002) including more frequent PTPN11 mutations (p