TY - JOUR
T1 - Myeloid sarcoma with NPM1 mutation may be clinically and genetically distinct from AML with NPM1 mutation
T2 - a study from the Bone Marrow Pathology Group
AU - for the Bone Marrow Pathology Group
AU - Ramia de Cap, Maximiliano
AU - Wu, Leo P.
AU - Hirt, Christian
AU - Pihan, German A.
AU - Patel, Sanjay S.
AU - Tam, Wayne
AU - Bueso-Ramos, Carlos E.
AU - Kanagal-Shamanna, Rashmi
AU - Raess, Philipp W.
AU - Siddon, Alexa
AU - Narayanan, Damodaran
AU - Morgan, Elizabeth A.
AU - Pinkus, Geraldine S.
AU - Mason, Emily F.
AU - Hsi, Eric D.
AU - Rogers, Heesun J.
AU - Toth, Laura
AU - Foucar, Kathryn
AU - Hurwitz, Stephanie N.
AU - Bagg, Adam
AU - Rets, Anton
AU - George, Tracy I.
AU - Orazi, Attilio
AU - Arber, Daniel A.
AU - Hasserjian, Robert P.
AU - Weinberg, Olga K.
N1 - Publisher Copyright:
© 2023 Informa UK Limited, trading as Taylor & Francis Group.
PY - 2023
Y1 - 2023
N2 - 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.
AB - 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.
KW - Hematopoiesis
KW - genetic and other predisposing conditions
KW - leukemic progenitor cells
KW - myeloid leukemias and dysplasias
KW - neoplasia
KW - neoplasia
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U2 - 10.1080/10428194.2023.2185091
DO - 10.1080/10428194.2023.2185091
M3 - Article
C2 - 36960680
AN - SCOPUS:85151072437
SN - 1042-8194
VL - 64
SP - 972
EP - 980
JO - Leukemia and Lymphoma
JF - Leukemia and Lymphoma
IS - 5
ER -