International Journal of Hematology

, Volume 107, Issue 5, pp 604–609 | Cite as

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

  • Suguru Uemura
  • Noriyuki Nishimura
  • Daiichiro Hasegawa
  • Akemi Shono
  • Kimiyoshi Sakaguchi
  • Hisayuki Matsumoto
  • Yuji Nakamachi
  • Jun Saegusa
  • Takehito Yokoi
  • Teppei Tahara
  • Akihiro Tamura
  • Nobuyuki Yamamoto
  • Atsuro Saito
  • Aiko Kozaki
  • Kenji Kishimoto
  • Toshiaki Ishida
  • Nanako Nino
  • Satoru Takafuji
  • Takeshi Mori
  • Kazumoto Iijima
  • Yoshiyuki Kosaka
Case Report

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 ETV6ABL1-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. ETV6ABL1 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.

Keywords

ETV6–ABL1 Monosomy 7 Ph-like ALL 

Notes

Compliance with ethical standards

Conflict of interest

The authors declare no competing financial interests.

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Copyright information

© The Japanese Society of Hematology 2017

Authors and Affiliations

  • Suguru Uemura
    • 1
    • 2
  • Noriyuki Nishimura
    • 2
  • Daiichiro Hasegawa
    • 1
  • Akemi Shono
    • 2
  • Kimiyoshi Sakaguchi
    • 3
  • Hisayuki Matsumoto
    • 4
  • Yuji Nakamachi
    • 4
  • Jun Saegusa
    • 4
  • Takehito Yokoi
    • 1
  • Teppei Tahara
    • 1
  • Akihiro Tamura
    • 1
  • Nobuyuki Yamamoto
    • 2
  • Atsuro Saito
    • 1
  • Aiko Kozaki
    • 1
  • Kenji Kishimoto
    • 1
  • Toshiaki Ishida
    • 1
  • Nanako Nino
    • 2
  • Satoru Takafuji
    • 2
  • Takeshi Mori
    • 2
  • Kazumoto Iijima
    • 2
  • Yoshiyuki Kosaka
    • 1
  1. 1.Department of Hematology and Oncology, Children’s Cancer CenterKobe Children’s HospitalKobeJapan
  2. 2.Department of PediatricsKobe University, Graduate School of MedicineKobeJapan
  3. 3.Department of PediatricsHamamatsu University School of MedicineHamamatsuJapan
  4. 4.Division of Clinical LaboratoryKobe University HospitalKobeJapan

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