Frontiers in Oncology (Mar 2024)

NUP214 fusion genes in acute leukemias: genetic characterization of rare cases

  • Marta Brunetti,
  • Kristin Andersen,
  • Signe Spetalen,
  • Signe Spetalen,
  • Andrea Lenartova,
  • Liv Toril Nygård Osnes,
  • Helen Vålerhaugen,
  • Sverre Heim,
  • Francesca Micci

DOI
https://doi.org/10.3389/fonc.2024.1371980
Journal volume & issue
Vol. 14

Abstract

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IntroductionAlterations of the NUP214 gene (9q34) are recurrent in acute leukemias. Rearrangements of chromosomal band 9q34 targeting this locus can be karyotypically distinct, for example t(6;9)(p22;q34)/DEK::NUP214, or cryptic, in which case no visible change of 9q34 is seen by chromosome banding.MethodsWe examined 9 cases of acute leukemia with NUP214 rearrangement by array Comparative Genomic Hybridization (aCGH), reverse-transcription polymerase chain reaction (RT-PCR), and cycle sequencing/Sanger sequencing to detect which fusion genes had been generated.ResultsThe chimeras DEK::NUP214, SET::NUP214, and NUP214::ABL1 were found, only the first of which can be readily detected by karyotyping.DiscussionThe identification of a specific NUP214 rearrangement is fundamental in the management of these patients, i.e., AMLs with DEK::NUP214 are classified as an adverse risk group and might be considered for allogenic transplant. Genome- and/or transcriptome-based next generation sequencing (NGS) techniques can be used to screen for these fusions, but we hereby present an alternative, step-wise procedure to detect these rearrangements.

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