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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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
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author 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
author_facet 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
author_sort Togni, Marco
collection PubMed
description 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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spelling pubmed-44670642015-06-16 Identification of the NUP98-PHF23 fusion gene in pediatric cytogenetically normal acute myeloid leukemia by whole-transcriptome sequencing 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 J Hematol Oncol Letter to the Editor 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. BioMed Central 2015-06-12 /pmc/articles/PMC4467064/ /pubmed/26066811 http://dx.doi.org/10.1186/s13045-015-0167-8 Text en © Togni et al. 2015 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Letter to the Editor
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
Identification of the NUP98-PHF23 fusion gene in pediatric cytogenetically normal acute myeloid leukemia by whole-transcriptome sequencing
title Identification of the NUP98-PHF23 fusion gene in pediatric cytogenetically normal acute myeloid leukemia by whole-transcriptome sequencing
title_full Identification of the NUP98-PHF23 fusion gene in pediatric cytogenetically normal acute myeloid leukemia by whole-transcriptome sequencing
title_fullStr Identification of the NUP98-PHF23 fusion gene in pediatric cytogenetically normal acute myeloid leukemia by whole-transcriptome sequencing
title_full_unstemmed Identification of the NUP98-PHF23 fusion gene in pediatric cytogenetically normal acute myeloid leukemia by whole-transcriptome sequencing
title_short Identification of the NUP98-PHF23 fusion gene in pediatric cytogenetically normal acute myeloid leukemia by whole-transcriptome sequencing
title_sort identification of the nup98-phf23 fusion gene in pediatric cytogenetically normal acute myeloid leukemia by whole-transcriptome sequencing
topic Letter to the Editor
url 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
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