International Journal of Hematology

, Volume 108, Issue 3, pp 312–318 | Cite as

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

  • Chihiro Tomoyasu
  • Toshihiko ImamuraEmail author
  • Toshihiro Tomii
  • Mio Yano
  • Daisuke Asai
  • Hiroaki Goto
  • Akira Shimada
  • Masashi Sanada
  • Shotaro Iwamoto
  • Junko Takita
  • Masayoshi Minegishi
  • Takeshi Inukai
  • Kanji Sugita
  • Hajime Hosoi
Original Article


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.


Copy number abnormality Acute lymphoblastic leukemia cell line CDKN2A CDKN2B BTG1 IKZF1 



SU-Ph2 was established at Kinki University School of Medicine, Osaka, and provided in 2010 (Dr. Y. Maeda). TCCY was established at Tochigi Cancer Center and provided in 2011 (Dr. Y. Sato). HALO1 and SK9 were established at Tokyo Medical University, Tokyo, and provided in 1997 (Dr. T. Look in Dana-Farber Cancer Institute, Boston, MA) and in 2012 (Dr. S. Okabe), respectively. Endokun was established at Iwate Medical University, Morioka, and provided in 1997 (Dr. M. Endo). Kasumi2 established at Hiroshima University, Hiroshima, and provided in 2010 (Dr. T. Inaba).

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest. A summary of relevant information will be published with the manuscript.

Supplementary material

12185_2018_2474_MOESM1_ESM.doc (264 kb)
Supplementary material 1 (DOC 264 KB)


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Copyright information

© The Japanese Society of Hematology 2018

Authors and Affiliations

  • Chihiro Tomoyasu
    • 1
    • 2
  • Toshihiko Imamura
    • 1
    Email author
  • Toshihiro Tomii
    • 1
  • Mio Yano
    • 3
  • Daisuke Asai
    • 4
  • Hiroaki Goto
    • 5
  • Akira Shimada
    • 6
  • Masashi Sanada
    • 7
  • Shotaro Iwamoto
    • 8
  • Junko Takita
    • 9
  • Masayoshi Minegishi
    • 10
  • Takeshi Inukai
    • 11
  • Kanji Sugita
    • 11
  • Hajime Hosoi
    • 1
  1. 1.Department of Pediatrics, Graduate School of Medical ScienceKyoto Prefectural University of MedicineKyotoJapan
  2. 2.Department of PediatricsNational Hospital Organization Maizuru Medical CenterMaizuruJapan
  3. 3.Department of PediatricsKyoto City HospitalKyotoJapan
  4. 4.Department of PediatricsJapanese Red Cross Kyoto Daini HospitalKyotoJapan
  5. 5.Division of Hemato-Oncology and Regenerative MedicineKanagawa Children’s Medical CenterYokohamaJapan
  6. 6.Department of Pediatric Hematology/OncologyOkayama University HospitalOkayamaJapan
  7. 7.Clinical Research CenterNational Hospital Organization Nagoya Medical CenterNagoyaJapan
  8. 8.Department of PediatricsMie University Graduate School of MedicineTsuJapan
  9. 9.Department of Pediatrics, Graduate School of MedicineThe University of TokyoTokyoJapan
  10. 10.Japanese Red Cross Fukushima Blood CenterOkumaJapan
  11. 11.Department of PediatricsYamanashi UniversityKofuJapan

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