Cancers (Dec 2022)

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

  • 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

DOI
https://doi.org/10.3390/cancers15010198
Journal volume & issue
Vol. 15, no. 1
p. 198

Abstract

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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 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.

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