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

Research output: Contribution to journalArticle

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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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Gene Fusion
Acute Myeloid Leukemia
Exons
Hematopoiesis
Hematologic Neoplasms
Fluorescence In Situ Hybridization
Introns
Reverse Transcription
Transcription Factors
Complementary DNA
Polymerase Chain Reaction

All Science Journal Classification (ASJC) codes

  • Cancer Research
  • Genetics
  • Molecular Biology

Cite this

Abe, Akihiro ; Katsumi, Akira ; Kobayashi, Miki ; Okamoto, Akinao ; Tokuda, Masutaka ; Kanie, Tadaharu ; Yamamoto, Yukiya ; Naoe, Tomoki ; Emi, Nobuhiko. / A novel RUNX1-C11orf41 fusion gene in a case of acute myeloid leukemia with a t(11;21)(p14;q22). In: Cancer Genetics. 2012 ; Vol. 205, No. 11. pp. 608-611.
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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, vol. 205, no. 11, pp. 608-611. https://doi.org/10.1016/j.cancergen.2012.10.001

A novel RUNX1-C11orf41 fusion gene in a case of acute myeloid leukemia with a t(11;21)(p14;q22). / Abe, Akihiro; Katsumi, Akira; Kobayashi, Miki; Okamoto, Akinao; Tokuda, Masutaka; Kanie, Tadaharu; Yamamoto, Yukiya; Naoe, Tomoki; Emi, Nobuhiko.

In: Cancer Genetics, Vol. 205, No. 11, 01.11.2012, p. 608-611.

Research output: Contribution to journalArticle

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AU - Tokuda, Masutaka

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AU - Naoe, Tomoki

AU - Emi, Nobuhiko

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