1. Myeloid sarcoma with NPM1 mutation may be clinically and genetically distinct from AML with NPM1 mutation: a study from the Bone Marrow Pathology Group.
- Author
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Ramia de Cap M, Wu LP, Hirt C, Pihan GA, Patel SS, Tam W, Bueso-Ramos CE, Kanagal-Shamanna R, Raess PW, Siddon A, Narayanan D, Morgan EA, Pinkus GS, Mason EF, Hsi ED, Rogers HJ, Toth L, Foucar K, Hurwitz SN, Bagg A, Rets A, George TI, Orazi A, Arber DA, Hasserjian RP, and Weinberg OK
- Subjects
- Humans, Bone Marrow pathology, Nuclear Proteins genetics, Nucleophosmin, Retrospective Studies, Cohort Studies, Mutation, Prognosis, Sarcoma, Myeloid diagnosis, Sarcoma, Myeloid genetics, Sarcoma, Myeloid pathology, Leukemia, Myeloid, Acute diagnosis, Leukemia, Myeloid, Acute genetics
- 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 < .001) and mutations of DNA-methylating genes including DNMT3A and IDH1 (both p < .001). MS had significantly shorter overall survival (OS) than AML (median OS: 44.9 vs. 93.2 months, respectively, p = .037). MS with NPM1 mutation has a unique genetic landscape, and poorer OS, compared to AML with NPM1 mutation.
- Published
- 2023
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