title: A novel RUNX1-C11orf41 fusion gene in a case of acute myeloid leukemia with a t(11;21)(p14;q22).
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.
authors.affiliation: Department of Hematology, Fujita Health University School of Medicine, Toyoake, Aichi, Japan. aakihiro@fijita-hu.ac.jp
authors.forename: Akihiro
authors.initials: A
authors.lastname: Abe
authors.forename: Akira
authors.initials: A
authors.lastname: Katsumi
authors.forename: Miki
authors.initials: M
authors.lastname: Kobayashi
authors.forename: Akinao
authors.initials: A
authors.lastname: Okamoto
authors.forename: Masutaka
authors.initials: M
authors.lastname: Tokuda
authors.forename: Tadaharu
authors.initials: T
authors.lastname: Kanie
authors.forename: Yukiya
authors.initials: Y
authors.lastname: Yamamoto
authors.forename: Tomoki
authors.initials: T
authors.lastname: Naoe
authors.forename: Nobuhiko
authors.initials: N
authors.lastname: Emi
mesh_terms: D059786:Abnormal Karyotype; D000368:Aged; D002880:Chromosomes, Human, Pair 11; D002891:Chromosomes, Human, Pair 21; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics*; D015321:Gene Rearrangement; D006651:Histocytochemistry; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015470:Leukemia, Myeloid, Acute / Q000235:genetics* / Q000473:pathology; D008297:Male; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; D015514:Oncogene Proteins, Fusion; C493728:RUNX1 protein, human