Inv(11)(p15q22)/NUP98-DDX10 fusion and isoforms in a new case of de novo acute myeloid leukemia

Cancer Genet. 2013 Mar;206(3):92-6. doi: 10.1016/j.cancergen.2013.02.001. Epub 2013 Mar 20.

Abstract

We set up a diagnostic double-color double-fusion fluorescence in situ hybridization (DCDF-FISH) assay to investigate a case of a de novo acute myeloid leukemia (AML)-M4 bearing an inv(11)(p15q22). DCDF-FISH detected the NUP98-DDX10 rearrangement as two fusion signals, at the short and the long arms of the inv(11). Reverse transcription-polymerase chain reaction (RT-PCR) and cloning experiments confirmed the NUP98-DDX10 fusion and identified two splicing fusion isoforms: the known "type II fusion," originating from the fusion of NUP98 exon 14 to DDX10 exon 7 and a new in-frame fusion transcript between NUP98 exon 15 and DDX10 exon 7, which we termed "type III fusion."

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acute Disease
  • Adult
  • Amino Acid Sequence
  • Base Sequence
  • Chromosome Banding
  • Chromosome Inversion*
  • Chromosomes, Human, Pair 11 / genetics*
  • DEAD-box RNA Helicases / genetics*
  • Exons / genetics
  • Humans
  • In Situ Hybridization, Fluorescence / methods
  • Karyotype
  • Leukemia, Myeloid / genetics*
  • Male
  • Molecular Sequence Data
  • Nuclear Pore Complex Proteins / genetics*
  • Oncogene Proteins, Fusion / genetics*
  • Protein Isoforms / genetics
  • Reverse Transcriptase Polymerase Chain Reaction
  • Transcription, Genetic

Substances

  • Nuclear Pore Complex Proteins
  • Nup98 protein, human
  • Oncogene Proteins, Fusion
  • Protein Isoforms
  • DDX10 protein, human
  • DEAD-box RNA Helicases