t(3;11)(q12;p15)/NUP98-LOC348801 fusion transcript in acute myeloid leukemia

Haematologica. 2008 Sep;93(9):1398-401. doi: 10.3324/haematol.12945. Epub 2008 Jul 4.

Abstract

In a case of acute myeloid leukemia we report molecular cytogenetic findings of a t(3;11)(q12;p15), characterized as a new NUP98 translocation rearranging with LOC348801 at chromosome 3. NUP98 involvement was detected by fluorescence in situ hybridization. 3'-RACE-PCR showed nucleotide 1718 (exon 13) of NUP98 was fused in-frame with nucleotide 1248 (exon 2) of LOC348801. RT-PCR and cloning experiments detected two in-frame spliced NUP98-LOC348801 transcripts and the reciprocal LOC348801-NUP98. A highly specific double-color double-fusion FISH assay reliably detects NUP98-LOC348801.

Publication types

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

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Base Sequence
  • Chromosomes, Human, Pair 3 / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Leukemia, Myeloid, Acute / genetics*
  • Male
  • Molecular Sequence Data
  • Nuclear Pore Complex Proteins / genetics*
  • Recombinant Fusion Proteins / genetics*
  • Transcription, Genetic / genetics*

Substances

  • Nuclear Pore Complex Proteins
  • Recombinant Fusion Proteins
  • nuclear pore complex protein 98