Identification of a Cryptic t(8;20;21)(q22;p13;q22) Resulting in RUNX1T1/RUNX1 Fusion in a Patient with Newly Diagnosed Acute Myeloid Leukemia

Erica L. Macke, Reid G. Meyer, Nicole L. Hoppman, Rhett P. Ketterling, Patricia T. Greipp, Xinjie Xu, Linda B. Baughn, Danielle A. Shafer, Rui R. He, Jess F. Peterson

Research output: Contribution to journalArticlepeer-review

Abstract

The detection of recurrent genetic abnormalities in acute myeloid leukemia (AML), including RUNX1T1/RUNX1 gene fusion, is critical for optimal medical management. Herein, we report a 45 year old woman with newly diagnosed AML and conventional chromosome studies that revealed an apparently balanced t(8;20)(q22;p13) in all 20 metaphases analyzed. A RUNX1T1/RUNX1 dual-color dual-fusion fluorescence in situ hybridization (FISH) probe set was subsequently performed and revealed a RUNX1T1/RUNX1 gene fusion. Metaphase FISH studies performed on abnormal metaphases revealed a cryptic, complex translocation resulting in RUNX1T1/RUNX1 fusion, t(8;20;21)(q22;p13;q22). This case study shows the importance of performing FISH studies or other high-resolution genetic testing concurrently with conventional chromosome studies for the detection of cryptic recurrent gene fusions in AML, particularly a focused genetic evaluation such as RUNX1T1/RUNX1 gene fusion, when specific abnormalities involving 8q22 are identified.

Original languageEnglish (US)
Pages (from-to)e87-e90
JournalLaboratory medicine
Volume53
Issue number4
DOIs
StatePublished - Jul 4 2022

Keywords

  • RUNX1
  • RUNX1T1
  • acute myeloid leukemia
  • conventional chromosome studies
  • cryptic translocation
  • fluorescence in situ hybridization

ASJC Scopus subject areas

  • Medicine(all)

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