Identification of the NUP98-PHF23 fusion gene in pediatric cytogenetically normal acute myeloid leukemia by whole-transcriptome sequencing

The genomic landscape of children with acute myeloid leukemia (AML) who do not carry any cytogenetic abnormality (CN-AML) is particularly heterogeneous and challenging, being characterized by different clinical outcomes. To provide new genetic insights into this AML subset, we analyzed through RNA-s...

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Detalles Bibliográficos
Autores principales: Togni, Marco, Masetti, Riccardo, Pigazzi, Martina, Astolfi, Annalisa, Zama, Daniele, Indio, Valentina, Serravalle, Salvatore, Manara, Elena, Bisio, Valeria, Rizzari, Carmelo, Basso, Giuseppe, Pession, Andrea, Locatelli, Franco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4467064/
https://www.ncbi.nlm.nih.gov/pubmed/26066811
http://dx.doi.org/10.1186/s13045-015-0167-8
Descripción
Sumario:The genomic landscape of children with acute myeloid leukemia (AML) who do not carry any cytogenetic abnormality (CN-AML) is particularly heterogeneous and challenging, being characterized by different clinical outcomes. To provide new genetic insights into this AML subset, we analyzed through RNA-seq 13 pediatric CN-AML cases, corroborating our findings in an independent cohort of 168 AML patients enrolled in the AIEOP AML 2002/01 study. We identified a chimeric transcript involving NUP98 and PHF23, resulting from a cryptic t(11;17)(p15;p13) translocation, demonstrating, for the first time, that NUP98-PHF23 is a novel recurrent (2.6 %) abnormality in pediatric CN-AML.

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