International Journal of Hematology

DOI: 10.1007/s12185-018-2474-7 Pages: 312-318

Copy number abnormality of acute lymphoblastic leukemia cell lines based on their genetic subtypes

1. Kyoto Prefectural University of Medicine, Department of Pediatrics, Graduate School of Medical Science

2. National Hospital Organization Maizuru Medical Center, Department of Pediatrics

3. Kyoto City Hospital, Department of Pediatrics

4. Japanese Red Cross Kyoto Daini Hospital, Department of Pediatrics

5. Kanagawa Children’s Medical Center, Division of Hemato-Oncology and Regenerative Medicine

6. Okayama University Hospital, Department of Pediatric Hematology/Oncology

7. National Hospital Organization Nagoya Medical Center, Clinical Research Center

8. Mie University Graduate School of Medicine, Department of Pediatrics

9. The University of Tokyo, Department of Pediatrics, Graduate School of Medicine

10. Japanese Red Cross Fukushima Blood Center

11. Yamanashi University, Department of Pediatrics

Correspondence to:
Toshihiko Imamura
Tel: +81-75-251-5571



In this study, we performed genetic analysis of 83 B cell precursor acute lymphoblastic leukemia (B-ALL) cell lines. First, we performed multiplex ligation-dependent probe amplification analysis to identify copy number abnormalities (CNAs) in eight genes associated with B-ALL according to genetic subtype. In Ph+ B-ALL cell lines, the frequencies of IKZF1, CDKN2A/2B, BTG1, and PAX5 deletion were significantly higher than those in Ph B-ALL cell lines. The frequency of CDKN2A/2B deletion in KMT2A rearranged cell lines was significantly lower than that in non-KMT2A rearranged cell lines. These findings suggest that CNAs are correlated with genetic subtype in B-ALL cell lines. In addition, we determined that three B-other ALL cell lines had IKZF1 deletions (YCUB-5, KOPN49, and KOPN75); we therefore performed comprehensive genetic analysis of these cell lines. YCUB-5, KOPN49, and KOPN75 had P2RY8-CRLF2, IgH-CRLF2, and PAX5-ETV6 fusions, respectively. Moreover, targeted capture sequencing revealed that YCUB-5 had JAK2 R683I and KRAS G12D, and KOPN49 had JAK2 R683G and KRAS G13D mutations. These data may contribute to progress in the field of leukemia research.

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