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Peer-reviewedCC BY 4.0International Journal of Hematology

Pediatric T-cell lymphoblastic lymphoma with t(9;17)(q34;q23)-associated N-terminally truncated NOTCH1 activation: a case report

  • Ayako Yamamori1
  • Daichi Sajiki1
  • Yusuke Tsumura1
  • Asahito Hama2
  • Manabu Wakamatsu1
  • Nao Yoshida2
  • Daiki Yamashita1
  • Kotaro Narita1
  • Shinsuke Kataoka1
  • Yusuke Okuno3
  • Hideki Muramatsu1
  • Yoshiyuki Takahashi1
  1. 1Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Aichi Japan
  2. 2Department of Hematology and Oncology, Children’s Medical Center, Japanese Red Cross Aichi Medical Center Nagoya First Hospital, Nagoya, Aichi Japan
  3. 3Department of Virology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Aichi Japan
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Abstract

T-cell lymphoblastic lymphoma (T-LBL) is an aggressive malignancy that comprises 20% of pediatric non-Hodgkin lymphoma cases. Most T-LBLs harbor NOTCH1 point mutations or small indels, which are generally associated with favorable outcomes. In contrast, the clinical impact of structural rearrangements involving NOTCH1 remains poorly understood. We describe the case of a 6-year-old boy with T-LBL carrying a MIR142HG::NOTCH1 fusion from a t(9;17)(q34;q23) translocation, resulting in a truncated, constitutively active NOTCH1 protein. The patient experienced an aggressive course and died shortly after cord blood transplantation. Literature review suggests that 9q34 translocations in T-LBL portend poor prognosis, highlighting truncated NOTCH1 as a potential therapeutic target.

Supplementary Information: The online version contains supplementary material available at https://doi.org/10.1007/s12185-026-04263-6.

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Cite

BibTeXRIS
BibTeX
@article{yamamori2026pediatric,
  title = {{Pediatric T-cell lymphoblastic lymphoma with t(9;17)(q34;q23)-associated N-terminally truncated NOTCH1 activation: a case report}},
  author = {Ayako Yamamori and Daichi Sajiki and Yusuke Tsumura and Asahito Hama and Manabu Wakamatsu and Nao Yoshida and Daiki Yamashita and Kotaro Narita and Shinsuke Kataoka and Yusuke Okuno and Hideki Muramatsu and Yoshiyuki Takahashi},
  journal = {International Journal of Hematology},
  year = {2026},
  month = sep,
  doi = {10.1007/s12185-026-04263-6},
  url = {https://doi.org/10.1007/s12185-026-04263-6},
  note = {CC BY 4.0},
}
RIS
TY  - JOUR
TI  - Pediatric T-cell lymphoblastic lymphoma with t(9;17)(q34;q23)-associated N-terminally truncated NOTCH1 activation: a case report
AU  - Ayako Yamamori
AU  - Daichi Sajiki
AU  - Yusuke Tsumura
AU  - Asahito Hama
AU  - Manabu Wakamatsu
AU  - Nao Yoshida
AU  - Daiki Yamashita
AU  - Kotaro Narita
AU  - Shinsuke Kataoka
AU  - Yusuke Okuno
AU  - Hideki Muramatsu
AU  - Yoshiyuki Takahashi
PY  - 2026
DA  - 2026/09/02
JO  - International Journal of Hematology
DO  - 10.1007/s12185-026-04263-6
UR  - https://doi.org/10.1007/s12185-026-04263-6
AB  - T-cell lymphoblastic lymphoma (T-LBL) is an aggressive malignancy that comprises 20% of pediatric non-Hodgkin lymphoma cases. Most T-LBLs harbor NOTCH1 point mutations or small indels, which are generally associated with favorable outcomes. In contrast, the clinical impact of structural rearrangements involving NOTCH1 remains poorly understood. We describe the case of a 6-year-old boy with T-LBL carrying a MIR142HG::NOTCH1 fusion from a t(9;17)(q34;q23) translocation, resulting in a truncated, constitutively active NOTCH1 protein. The patient experienced an aggressive course and died shortly after cord blood transplantation. Literature review suggests that 9q34 translocations in T-LBL portend poor prognosis, highlighting truncated NOTCH1 as a potential therapeutic target.  Supplementary Information: The online version contains supplementary material available at https://doi.org/10.1007/s12185-026-04263-6.
SN  - 0925-5710
SN  - 1865-3774
ER  -