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

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

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.

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Child, Preschool
  • Cohort Studies
  • Cytogenetics / methods*
  • Female
  • Gene Fusion
  • Humans
  • Leukemia, Myeloid, Acute / genetics*
  • Male
  • Transcriptome / genetics*
  • Translocation, Genetic