NUP98/JARID1A is a novel recurrent abnormality in pediatric acute megakaryoblastic leukemia with a distinct HOX gene expression pattern

Leukemia. 2013 Dec;27(12):2280-8. doi: 10.1038/leu.2013.87. Epub 2013 Mar 27.

Abstract

Cytogenetic abnormalities and early response to treatment are the main prognostic factors in acute myeloid leukemia (AML). Recently, NUP98/NSD1 (t(5; 11)(q35; p15)), a cytogenetically cryptic fusion, was described as recurrent event in AML, characterized by dismal prognosis and HOXA/B gene overexpression. Using split-signal fluorescence in situ hybridization, other NUP98-rearranged pediatric AML cases were identified, including several acute megakaryoblastic leukemia (AMKL) cases with a cytogenetically cryptic fusion of NUP98 to JARID1A (t(11;15)(p15;q35)). In this study we screened 105 pediatric AMKL cases to analyze the frequency of NUP98/JARID1A and other recurrent genetic abnormalities. NUP98/JARID1A was identified in 11/105 patients (10.5%). Other abnormalities consisted of RBM15/MKL1 (n=16), CBFA2T3/GLIS2 (n=13) and MLL-rearrangements (n=13). Comparing NUP98/JARID1A-positive patients with other pediatric AMKL patients, no significant differences in sex, age and white blood cell count were found. NUP98/JARID1A was not an independent prognostic factor for 5-year overall (probability of overall survival (pOS)) or event-free survival (probability of event-free survival (pEFS)), although the 5-year pOS for the entire AMKL cohort was poor (42 ± 6%). Cases with RBM15/MLK1 fared significantly better in terms of pOS and pEFS, although this was not independent from other risk factors in multivariate analysis. NUP98/JARID1A cases were characterized by HOXA/B gene overexpression, which is a potential druggable pathway. In conclusion, NUP98/JARID1A is a novel recurrent genetic abnormality in pediatric AMKL.

MeSH terms

  • Adolescent
  • Base Sequence
  • Child
  • Child, Preschool
  • Chromosomes, Human, Pair 11
  • Chromosomes, Human, Pair 5
  • Female
  • Gene Expression Profiling*
  • Genes, Homeobox*
  • Humans
  • Infant
  • Infant, Newborn
  • Leukemia, Megakaryoblastic, Acute / genetics*
  • Male
  • Molecular Sequence Data
  • Nuclear Pore Complex Proteins / genetics*
  • Retinoblastoma-Binding Protein 2 / genetics*
  • Translocation, Genetic

Substances

  • Nuclear Pore Complex Proteins
  • Nup98 protein, human
  • KDM5A protein, human
  • Retinoblastoma-Binding Protein 2