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

Hashiguchi, Junichi; Onozawa, Masahiro; Oguri, Satoshi; Fujisawa, Shinichi; Tsuji, Masahisa; Okada, Kohei; Nakagawa, Masao; Hashimoto, Daigo; Kahata, Kaoru; Kondo, Takeshi; Shimizu, Chikara; Teshima, Takanori

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

Hashiguchi, Junichi; Onozawa, Masahiro; Oguri, Satoshi et al.

The Journal of Molecular Diagnostics, 2018, 20(4), 446-454

Permalink : https://hdl.handle.net/2115/74830

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アクセス権	open access
URI	https://hdl.handle.net/2115/74830
タイトル	Development of a Fluorescence in Situ Hybridization Probe for Detecting IKZF1 Deletion Mutations in Patients with Acute Lymphoblastic Leukemia
著者	Hashiguchi, Junichi ; Onozawa, Masahiro ; Oguri, Satoshi ; Fujisawa, Shinichi ; Tsuji, Masahisa ; Okada, Kohei ; Nakagawa, Masao ; Hashimoto, Daigo ; Kahata, Kaoru ; Kondo, Takeshi ; Shimizu, Chikara ; Teshima, Takanori
著者名 Hashiguchi, Junichi
e-Rad_Researcher 70455632 著者名 Onozawa, Masahiro
著者名 Oguri, Satoshi
著者名 Fujisawa, Shinichi
著者名 Tsuji, Masahisa
著者名 Okada, Kohei
著者名 Nakagawa, Masao
e-Rad_Researcher 20419576 著者名 Hashimoto, Daigo
著者名 Kahata, Kaoru
e-Rad_Researcher 70333606 著者名 Kondo, Takeshi
e-Rad_Researcher 00292029 著者名 Shimizu, Chikara
e-Rad_Researcher 40284096 著者名 Teshima, Takanori
言語	英語
キーワード	FISH
	illegitimate V(D)J rearrangement
	IKZF1
	ikaros
	RAG1/2-mediated rearrangement
発行日	2018-07
出版者	Elsevier
収録物名	The Journal of Molecular Diagnostics
巻(号)	20(4)
ページ	446-454
抄録	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.
資源タイプ	学術雑誌論文
出版タイプ	Accepted Manuscript
権利情報	Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International
権利情報	©2018. This manuscript version is made available under the CC-BY-NC-ND 4.0 license http://creativecommons.org/licenses/by-nc-nd/4.0/
PISSN	1525-1578
関連情報	PMID 29957452
関連情報 (isVersionOf)	出版社版DOI https://doi.org/10.1016/j.jmoldx.2018.02.005