TY - JOUR
T1 - A novel RUNX1-C11orf41 fusion gene in a case of acute myeloid leukemia with a t(11;21)(p14;q22)
AU - Abe, Akihiro
AU - Katsumi, Akira
AU - Kobayashi, Miki
AU - Okamoto, Akinao
AU - Tokuda, Masutaka
AU - Kanie, Tadaharu
AU - Yamamoto, Yukiya
AU - Naoe, Tomoki
AU - Emi, Nobuhiko
N1 - Funding Information:
This work was supported by a grant-in-aid from Fujita Health University . We thank Sachiko Iba and Akemi Endo for their valuable laboratory assistance.
PY - 2012/11
Y1 - 2012/11
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=84869460629&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84869460629&partnerID=8YFLogxK
U2 - 10.1016/j.cancergen.2012.10.001
DO - 10.1016/j.cancergen.2012.10.001
M3 - Article
C2 - 23102734
AN - SCOPUS:84869460629
SN - 2210-7762
VL - 205
SP - 608
EP - 611
JO - Cancer Genetics
JF - Cancer Genetics
IS - 11
ER -