Molecular characterization of alternative SET-NUP214 fusion transcripts in a case of acute undifferentiated leukemia

Juwon Kim, Sang Guk Lee, Jaewoo Song, Soo Jeong Kim, Sun Young Rha, Kyung A. Lee, Tae Sung Park, Jong Rak Choi

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Cryptic deletions are occasionally reported in hematologic malignancies. The SET-NUP214 fusion gene has been rarely reported in acute myeloid leukemia, acute undifferentiated leukemia, and recurrently in T-cell acute lymphoblastic leukemia. The fusion product is generated by a submicroscopic deletion in the vicinity of 9q34. Herein we present a novel case of acute undifferentiated leukemia with SET-NUP214 rearrangement due to the cryptic deletion of the 9q34 region producing two different types of fusion transcripts by alternative splicing and molecular characterization of the fusion transcripts by fluorescence in situ hybridization, reverse transcriptase-polymerase chain reaction, and array comparative genomic hybridization analyses.

Original languageEnglish
Pages (from-to)73-80
Number of pages8
JournalCancer genetics and cytogenetics
Issue number2
Publication statusPublished - 2010 Sep 1


All Science Journal Classification (ASJC) codes

  • Molecular Biology
  • Genetics
  • Cancer Research

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