The Impact of Mutation of Myelodysplasia-Related Genes in De Novo Acute Myeloid Leukemia Carrying NPM1 Mutation

Authors

Yi Wang
Andres E Quesada
Zhuang Zuo
L Jeffrey Medeiros
C Cameron Yin
Shaoying Li
Jie Xu
Gautam Borthakur
Yisheng Li
Chao Yang
Yasmin Abaza
Juehua Gao
Xinyan Lu
M James You
Yizhuo Zhang
Pei Lin

Publication Date

12-29-2022

Journal

Cancers

Abstract

Background: The impact of gene mutations typically associated with myelodysplastic syndrome (MDS) in acute myeloid leukemia (AML) with NPM1 mutation is unclear. Methods: Using a cohort of 107 patients with NPM1-mutated AML treated with risk-adapted therapy, we compared survival outcomes of patients without MDS-related gene mutations (group A) with those carrying concurrent FLT3-ITD (group B) or with MDS-related gene mutations (group C). Minimal measurable disease (MMD) status assessed by multiparameter flow cytometry (MFC), polymerase chain reaction (PCR), and/or next-generation sequencing (NGS) were reviewed. Results: Among the 69 patients treated intensively, group C showed significantly inferior progression-free survival (PFS, p < 0.0001) but not overall survival (OS, p = 0.055) compared to group A. Though groups A and C had a similar MMD rate, group C patients had a higher relapse rate (p = 0.016). Relapse correlated with MMD status at the end of cycle 2 induction (p = 0.023). Survival of group C patients was similar to that of group B. Conclusion: MDS-related gene mutations are associated with an inferior survival in NPM1-mutated AML.

Keywords

AML, NPM1, MMD

Comments

Supplementary Material

Data Availability Statement

PMID: 36612194

DOI

10.3390/cancers15010198

PMID

36612194

PMCID

PMC9818485

PubMedCentral® Posted Date

December 2022

PubMedCentral® Full Text Version

Post-print

Published Open-Access

yes