A novel RUNX1-C11orf41 fusion gene in a case of acute myeloid leukemia with a t(11;21)(p14;q22)

Akihiro Abe, Akira Katsumi, Miki Kobayashi, Akinao Okamoto, Masutaka Tokuda, Tadaharu Kanie, Yukiya Yamamoto, Tomoki Naoe, Nobuhiko Emi

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Abstract

The RUNX1 locus, which encodes a transcription factor that is essential for normal hematopoiesis, is a frequent location of chromosomal rearrangements in human hematological malignancies. We report the case of a 78-year-old man with acute myeloid leukemia (AML), M1 subtype (French-American-British classification), with a t(11;21)(p14;q22). Fluorescence in situ hybridization showed a split signal for RUNX1, which indicated that RUNX1 was involved in this translocation. Using 3'-rapid amplification of cDNA ends and reverse transcription-polymerase chain reaction analyses, we found that RUNX1 was fused to C11orf41 on 11p14 and detected two in-frame C11orf41-RUNX1 fusion transcripts. One was a fusion between exon 5 of RUNX1 and exon 13 of C11orf41, and the other was between exon 6 of RUNX1 and exon 13 of C11orf41. This suggested that the RUNX1 breakpoint was in intron 6 and had generated alternative fusion splice variants. A reciprocal C11orf41-RUNX1 fusion was not detected. Thus, we identified C11orf41 as a novel fusion partner of RUNX1 in AML.

Original languageEnglish
Pages (from-to)608-611
Number of pages4
JournalCancer Genetics
Volume205
Issue number11
DOIs
Publication statusPublished - 01-11-2012

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All Science Journal Classification (ASJC) codes

  • Molecular Biology
  • Genetics
  • Cancer Research

Cite this

Abe, A., Katsumi, A., Kobayashi, M., Okamoto, A., Tokuda, M., Kanie, T., Yamamoto, Y., Naoe, T., & Emi, N. (2012). A novel RUNX1-C11orf41 fusion gene in a case of acute myeloid leukemia with a t(11;21)(p14;q22). Cancer Genetics, 205(11), 608-611. https://doi.org/10.1016/j.cancergen.2012.10.001