[Acute myeloid leukemia harboring NUP98::DDX10]

Rinsho Ketsueki. 2022;63(10):1397-1401. doi: 10.11406/rinketsu.63.1397.
[Article in Japanese]

Abstract

NUP98::DDX10 is a rare fusion gene associated with acute myeloid leukemia (AML), for which the prognosis and indication for allogeneic hematopoietic stem cell transplantation are unknown. A 48-year-old woman was diagnosed with AML harboring NUP98::DDX10. The results of quantitative RT-PCR of the fusion mRNA as a minimal residual disease (MRD) marker guided the treatment. In August 2019, the patient achieved hematological remission following standard remission induction therapy with idarubicin and cytarabine. After four cycles of consolidation therapies, MRD was detected, and she underwent allogeneic stem cell transplantation in May 2020. As MRD persisted in June, the immunosuppressant was stopped and three cycles of azacitidine were administered. Despite this, a hematological relapse occurred in January 2021 that was resistant to high-dose cytarabine and an investigational agent. She died as a result of the disease's progression. Thus, a second thought should be given to the timing of transplantation, the bridging, and the intervention for relapse after transplantation. The cases must be accumulated.

Keywords: Acute myeloid leukemia; Allogeneic stem cell transplantation; Minimal residual disease; NUP98::DDX10.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Cytarabine / therapeutic use
  • DEAD-box RNA Helicases / genetics
  • Female
  • Hematopoietic Stem Cell Transplantation*
  • Humans
  • Leukemia, Myeloid, Acute* / drug therapy
  • Leukemia, Myeloid, Acute* / therapy
  • Middle Aged
  • Neoplasm, Residual
  • Nuclear Pore Complex Proteins / genetics
  • Prognosis
  • Recurrence

Substances

  • nuclear pore complex protein 98
  • Cytarabine
  • Nup98 protein, human
  • Nuclear Pore Complex Proteins
  • DDX10 protein, human
  • DEAD-box RNA Helicases