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

Paolo Gorello, Valeria Nofrini, Lucia Brandimarte, Valentina Pierini, Barbara Crescenzi, Filomena Nozza, Giulia Daniele, Clelia Tiziana Storlazzi, Danika Di Giacomo, Caterina Matteucci, Roberta La Starza, Cristina Mecucci

Research output: Contribution to journalArticlepeer-review


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." .

Original languageEnglish
Pages (from-to)92-96
Number of pages5
JournalCancer genetics
Issue number3
Publication statusPublished - Mar 2013


  • AML
  • FISH
  • Fusion isoforms
  • NUP98-DDX10

ASJC Scopus subject areas

  • Cancer Research
  • Genetics
  • Molecular Biology


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