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Development of a Fluorescence in Situ Hybridization Probe for Detecting IKZF1 Deletion Mutations in Patients with Acute Lymphoblastic Leukemia

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Title: Development of a Fluorescence in Situ Hybridization Probe for Detecting IKZF1 Deletion Mutations in Patients with Acute Lymphoblastic Leukemia
Authors: Hashiguchi, Junichi Browse this author
Onozawa, Masahiro Browse this author →KAKEN DB
Oguri, Satoshi Browse this author
Fujisawa, Shinichi Browse this author
Tsuji, Masahisa Browse this author
Okada, Kohei Browse this author
Nakagawa, Masao Browse this author
Hashimoto, Daigo Browse this author →KAKEN DB
Kahata, Kaoru Browse this author
Kondo, Takeshi Browse this author →KAKEN DB
Shimizu, Chikara Browse this author →KAKEN DB
Teshima, Takanori Browse this author →KAKEN DB
Keywords: FISH
illegitimate V(D)J rearrangement
RAG1/2-mediated rearrangement
Issue Date: Jul-2018
Publisher: Elsevier
Journal Title: The Journal of Molecular Diagnostics
Volume: 20
Issue: 4
Start Page: 446
End Page: 454
Publisher DOI: 10.1016/j.jmoldx.2018.02.005
PMID: 29957452
Abstract: Intragenic deletion of IKZF1 is a recurrent genomic alteration in acute lymphoblastic leukemia. The deletions are mediated by illegitimate variable(diversity)joining recombination via cryptic recombination signal sequences (RSSs). We developed a fluorescence in situ hybridization (FISH) probe set that can detect any type of IKZF1 deletion, including the commonly deleted exon 4 to 7 region. The probe set consists of a designed probe for the commonly deleted region (Cy3; red) and a bacterial artificial chromosomes clone probe for detecting the 3' flanking region (Spectrum Green). Intact IKZF1 showed a fusion signal, and the deleted allele showed loss of the red signal (0R1G1F). The FISH probes worked correctly for human leukemic cell lines and clinical samples. One case showed an atypical break-apart signal (1R1G1F). Inverse PCR of the case revealed rearrangement of the excised IKZF1 fragment into a legitimate RSS site at Ig κ on chromosome 2, suggesting a pathogenic role of this recombination-activating gene 1/2-mediated event. In this study, we established FISH probe detecting IKZF1 deletion in a quick, quantitative, and cost-effective manner, and the results provided a novel insight into B-cell receptor editing by rearrangement of a cryptic RSS-mediated genomic fragment in acute lymphoblastic leukemia pathology.
Rights: ©2018. This manuscript version is made available under the CC-BY-NC-ND 4.0 license
Type: article (author version)
Appears in Collections:医学院・医学研究院 (Graduate School of Medicine / Faculty of Medicine) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)

Submitter: 小野澤 真弘

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