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NUP214 in Acute Myeloid Leukemia.

Øystein Bruserud1,2, Håkon Reikvam1,2

  • 1Acute Leukemia Research Group, Department of Clinical Science, University of Bergen, 5007 Bergen, Norway.

Cells
|September 26, 2025
PubMed
Summary
This summary is machine-generated.

Nucleoporin 214 (NUP214) gene fusions, including DEK-NUP214, are implicated in acute myeloid leukemia (AML) pathogenesis. This review examines their functions, mechanisms, and clinical impact in AML.

Keywords:
ABL proto-oncogene 1DEK proto-oncogeneSET nuclear proto-oncogenechemosensitivityfusion proteinleukemogenesisnon-receptor tyrosine kinasenuclear porenucleoporin 214sequestosome-1

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Area of Science:

  • Molecular Biology
  • Hematology
  • Oncology

Background:

  • Nucleoporin 214 (NUP214) participates in nucleocytoplasmic transport and regulates gene expression, cell signaling, cell cycle, and apoptosis.
  • NUP214 gene rearrangements are implicated in leukemic transformation in acute myeloid leukemia (AML).

Purpose of the Study:

  • To review the functions of NUP214-related fusion genes and proteins in AML.
  • To analyze molecular mechanisms, biological functions, and clinical characteristics associated with these AML variants.
  • To evaluate the prognostic impact of NUP214 fusion genes in AML.

Main Methods:

  • Literature review of studies on NUP214 fusion genes in AML.
  • Analysis of molecular mechanisms and biological functions of fusion proteins.
  • Review of clinical and pathological characteristics of AML patients with NUP214 fusions.

Main Results:

  • The t(6;9) translocation yielding DEK-NUP214 fusion protein occurs in 1-2% of AML cases, associated with adverse prognosis.
  • SET-NUP214, NUP214-ABL1, and NUP214-SQSTM1 fusions are less common, with SET-NUP214 showing biological similarities to DEK-NUP214.
  • Prognostic impact of SET-NUP214 and other rare fusions remains largely unknown.

Conclusions:

  • NUP214 fusions represent diverse molecular events in AML with varying clinical implications.
  • Further research is needed to elucidate the prognostic significance of less common NUP214 fusion variants.
  • Understanding these fusions is crucial for targeted therapies and improved AML patient outcomes.