Detection of a Cryptic EP300/ZNF384 Gene Fusion by Chromosomal Microarray and Next-Generation Sequencing Studies in a Pediatric Patient with B-Lymphoblastic Leukemia

Lab Med. 2021 May 4;52(3):297-302. doi: 10.1093/labmed/lmaa085.

Abstract

Zinc-finger protein 384 (ZNF384) gene fusions with EP300 have recently been described as a recurrent fusion in B-cell acute lymphoblastic leukemia (B-ALL) with a good response to conventional chemotherapy, suggesting a favorable prognosis. Herein, we report on a female patient aged 12 years with uninformative conventional chromosome and B-ALL panel fluorescence in situ hybridization studies with chromosomal microarray showing multiple copy number gains, including relative gains in the ZNF384 (12p13.31) and EP300 (22q13.2) gene regions, suggesting a cryptic EP300/ZNF384 fusion. Ultimately, a next-generation sequencing assay, mate pair sequencing, was utilized to confirm EP300/ZNF384 fusion in this B-ALL clone, which may confer a favorable overall prognosis and potential targeted therapy.

Keywords: EP300; ZNF384; B-cell acute lymphoblastic leukemia (B-ALL); chromosomal microarray; mate pair sequencing; next-generation sequencing.

MeSH terms

  • Child
  • Chromosomes
  • E1A-Associated p300 Protein
  • Female
  • Gene Fusion
  • High-Throughput Nucleotide Sequencing
  • Humans
  • In Situ Hybridization, Fluorescence
  • Oncogene Proteins, Fusion* / genetics
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma* / diagnosis
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma* / genetics
  • Trans-Activators / genetics
  • Transcription Factors

Substances

  • Oncogene Proteins, Fusion
  • Trans-Activators
  • Transcription Factors
  • ZNF384 protein, human
  • E1A-Associated p300 Protein
  • EP300 protein, human