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

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

JOURNAL=Frontiers in Oncology

VOLUME=14

YEAR=2024

URL=https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2024.1371980

DOI=10.3389/fonc.2024.1371980

ISSN=2234-943X

ABSTRACT=<sec><title>Introduction</title><p>Alterations of the <italic>NUP214</italic> 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)/<italic>DEK::NUP214</italic>, or cryptic, in which case no visible change of 9q34 is seen by chromosome banding.</p></sec><sec><title>Methods</title><p>We examined 9 cases of acute leukemia with <italic>NUP214</italic> 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.</p></sec><sec><title>Results</title><p>The chimeras <italic>DEK</italic>::<italic>NUP214</italic>, <italic>SET</italic>::<italic>NUP214</italic>, and <italic>NUP214</italic>::<italic>ABL1</italic> were found, only the first of which can be readily detected by karyotyping.</p></sec><sec><title>Discussion</title><p>The identification of a specific <italic>NUP214</italic> rearrangement is fundamental in the management of these patients, i.e., AMLs with <italic>DEK::NUP214</italic> 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.</p></sec>