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J Hematol Oncol. 2015 Jun 12;8:69. doi: 10.1186/s13045-015-0167-8.

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

Author information

1
Department of Pediatrics, "Lalla Seràgnoli" Hematology-Oncology Unit, University of Bologna, Bologna, Italy.
2
Department of Pediatrics, "Lalla Seràgnoli" Hematology-Oncology Unit, University of Bologna, Bologna, Italy. riccardo.masetti@gmail.com.
3
Department of Paediatric Haematology, University of Padova, Padova, Italy.
4
Giorgio Prodi Cancer Research Centre, University of Bologna, Bologna, Italy.
5
Department of Pediatrics, San Gerardo Hospital, University of Milano-Bicocca, Monza, Italy.
6
Department of Pediatric Hematology-Oncology, IRCCS Ospedale Bambino Gesù, Roma - University of Pavia, Pavia, Italy.

Abstract

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.

PMID:
26066811
PMCID:
PMC4467064
DOI:
10.1186/s13045-015-0167-8
[Indexed for MEDLINE]
Free PMC Article

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