DEK-NUP214-Fusion Identified by RNA-Sequencing of an Acute Myeloid Leukemia with t(9;12)(q34;q15)

Cancer Genomics Proteomics. Nov-Dec 2017;14(6):437-443. doi: 10.21873/cgp.20053.

Abstract

Background/aim: Given the diagnostic, prognostic, biologic, and even therapeutic impact of leukemia-associated translocations and fusion genes, it is important to detect cryptic genomic rearrangements that may exist in hematological malignancies.

Case report: RNA-sequencing was performed on an acute myeloid leukemia case with the bone marrow karyotype 45,X,-Y,t(9;12) (q34;q15)[16].

Results: The DEK-NUP214 and PRRC2B-DEK fusion genes were found. Reverse transcriptase polymerase chain reaction together with direct sequencing verified the presence of both. Fluorescence in situ hybridization showed that the DEK-NUP214 fusion gene was located on the 6p22 band of a seemingly normal chromosome 6.

Conclusion: RNA-sequencing proved to be a valuable tool for the detection of a fusion of genes DEK and NUP214 in a leukemia that showed cryptic cytogenetic rearrangement of chromosome band 9q34.

Keywords: Acute myeloid leukemia; DEK; DEK-NUP214 fusion gene; NUP214; PRRC2B; PRRC2B-DEK fusion gene; RNA-sequencing.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Chromosomal Proteins, Non-Histone / genetics*
  • Chromosomal Proteins, Non-Histone / metabolism
  • Humans
  • Leukemia, Myeloid, Acute / genetics*
  • Leukemia, Myeloid, Acute / pathology
  • Male
  • Nuclear Pore Complex Proteins / genetics*
  • Nuclear Pore Complex Proteins / metabolism
  • Oncogene Proteins / genetics*
  • Oncogene Proteins / metabolism
  • Oncogene Proteins, Fusion / genetics*
  • Poly-ADP-Ribose Binding Proteins / genetics*
  • Poly-ADP-Ribose Binding Proteins / metabolism
  • Sequence Analysis, RNA / methods*
  • Transcription Factors / genetics*
  • Young Adult

Substances

  • Chromosomal Proteins, Non-Histone
  • Dek protein, human
  • NUP214 protein, human
  • Nuclear Pore Complex Proteins
  • Oncogene Proteins
  • Oncogene Proteins, Fusion
  • Poly-ADP-Ribose Binding Proteins
  • Transcription Factors