NUP214 fusion genes in acute leukemias: genetic characterization of rare cases.
Front Oncol
; 14: 1371980, 2024.
Article
em En
| MEDLINE
| ID: mdl-38571499
ABSTRACT
Introduction:
Alterations 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)/DEKNUP214, or cryptic, in which case no visible change of 9q34 is seen by chromosome banding.Methods:
We 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.Results:
The chimeras DEKNUP214, SETNUP214, and NUP214ABL1 were found, only the first of which can be readily detected by karyotyping.Discussion:
The identification of a specific NUP214 rearrangement is fundamental in the management of these patients, i.e., AMLs with DEKNUP214 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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Base de dados:
MEDLINE
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article