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ETV6–ABL1 fusion combined with monosomy 7 in childhood B-precursor acute lymphoblastic leukemia

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Abstract

ETV6–ABL1 fusion is a rare but recurrent oncogenic lesion found in childhood B-cell precursor acute lymphoblastic leukemia (BCP-ALL), without an established chromosomal abnormality, and is associated with poor outcome. In ETV6–ABL1-positive cases, an in-frame fusion produced by a complex rearrangement results in constitutive chimeric tyrosine kinase activity. Monosomy 7 is also a rare and unfavorable chromosomal abnormality in childhood BCP-ALL. Here, we report a 14-year-old female BCP-ALL patient with ETV6–ABL1 fusion combined with monosomy 7. She was admitted to our hospital because of persistent fever. Bone marrow nuclear cell count on admission was 855,000/µL with 90.0% blastic cells of lymphoid morphology. Blasts were positive for CD10, CD19, CD20, CD34, cyCD79a, cyTdT, HLA-DR, and CD66c, had a karyotype of 45, XX, − 7 [18/20] and a split signal for ABL1 FISH probe (92.7%), and were sensitive to tyrosine kinase inhibitors, imatinib and dasatinib, in vitro. ETV6–ABL1 fusion transcript was identified by whole transcriptome sequencing and confirmed by RT-PCR. She was treated with the high-risk protocol based on ALL-BFM 95, achieved complete remission (CR) after induction chemotherapy, and maintained CR for 4 months. To our knowledge, this is the first report of ETV6–ABL1 fusion combined with monosomy 7 in childhood BCP-ALL.

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Authors and Affiliations

  1. Department of Hematology and Oncology, Children’s Cancer Center, Kobe Children’s Hospital, Minatojima Minamimachi 1-6-7, Chuo-ku, Kobe, 650-0047, Japan

    Suguru Uemura, Daiichiro Hasegawa, Takehito Yokoi, Teppei Tahara, Akihiro Tamura, Atsuro Saito, Aiko Kozaki, Kenji Kishimoto, Toshiaki Ishida & Yoshiyuki Kosaka

  2. Department of Pediatrics, Kobe University, Graduate School of Medicine, Kobe, Japan

    Suguru Uemura, Noriyuki Nishimura, Akemi Shono, Nobuyuki Yamamoto, Nanako Nino, Satoru Takafuji, Takeshi Mori & Kazumoto Iijima

  3. Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan

    Kimiyoshi Sakaguchi

  4. Division of Clinical Laboratory, Kobe University Hospital, Kobe, Japan

    Hisayuki Matsumoto, Yuji Nakamachi & Jun Saegusa

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  1. Suguru Uemura
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  2. Noriyuki Nishimura
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  9. Takehito Yokoi
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  12. Nobuyuki Yamamoto
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  16. Toshiaki Ishida
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  18. Satoru Takafuji
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  19. Takeshi Mori
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  20. Kazumoto Iijima
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  21. Yoshiyuki Kosaka
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Correspondence to Suguru Uemura.

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Uemura, S., Nishimura, N., Hasegawa, D. et al. ETV6–ABL1 fusion combined with monosomy 7 in childhood B-precursor acute lymphoblastic leukemia. Int J Hematol 107, 604–609 (2018). https://doi.org/10.1007/s12185-017-2371-5

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  • DOI: https://doi.org/10.1007/s12185-017-2371-5

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