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

Holly E. Berg, Patrick R. Blackburn, James B. Smadbeck, Kirsten E. Swanson, Christopher S. Rice, Matthew R. Webley, Sarah H. Johnson, George Vasmatzis, Xinjie Xu, Patricia T. Greipp, Nicole L. Hoppman, Rhett P. Ketterling, Linda B. Baughn, Catherine H. Boston, Lisa M. Sutton, Jess F. Peterson

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Pages (from-to)297-302
Number of pages6
JournalLaboratory medicine
Volume52
Issue number3
DOIs
StatePublished - May 4 2021

Keywords

  • B-cell acute lymphoblastic leukemia (B-ALL)
  • EP300
  • ZNF384
  • chromosomal microarray
  • mate pair sequencing
  • next-generation sequencing

ASJC Scopus subject areas

  • Clinical Biochemistry
  • Biochemistry, medical

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