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Pediatric T-Lymphoblastic Leukemia With Aberrant B-Cell Marker Expression: A Potential Role for Targeted Therapy.

Mahsa Khanlari1, Wei Wang2, Paul E Mead1

  • 1Department of Pathology St. Jude Children's Research Hospital Memphis Tennessee USA.

Ejhaem
|November 28, 2025
PubMed
Summary

This pediatric T-lymphoblastic leukemia/lymphoma case with B-cell antigen expression and a SET::NUP214 fusion highlights the need for integrated flow cytometry and sequencing. Combined therapies achieved remission after initial treatment failure.

Keywords:
NUP214T‐LBLLblinatumomabtargeted therapy

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Area of Science:

  • Hematology
  • Oncology
  • Genetics

Background:

  • B-cell antigen expression is uncommon in T-lymphoblastic leukemia/lymphoma (T-LBLL).
  • The clinical significance of co-expressing B-cell antigens in T-LBLL remains unclear.

Purpose of the Study:

  • To present a pediatric case of acute leukemia with mixed T-cell and B-cell (CD19) marker expression.
  • To investigate the genetic underpinnings of this rare leukemia subtype using next-generation sequencing (NGS).
  • To evaluate treatment strategies for this challenging diagnosis.

Main Methods:

  • Diagnosis was established using multicolor flow cytometry (MFC) for immunophenotyping.
  • Next-generation sequencing (NGS) identified a SET::NUP214 gene fusion.
  • Treatment involved conventional acute lymphoblastic leukemia (ALL) therapy, blinatumomab, decitabine, venetoclax, and bone marrow stem cell transplant (BMSCT).

Main Results:

  • The patient's leukemia expressed T-cell markers and CD19.
  • Conventional ALL therapy resulted in significant residual disease.
  • Subsequent treatment with blinatumomab, decitabine, and venetoclax led to morphologic remission, followed by molecular remission post-BMSCT.

Conclusions:

  • Integrated analysis of MFC and NGS data is crucial for personalized treatment of T-LBLL.
  • This case demonstrates a potential therapeutic pathway for T-LBLL with B-cell antigen expression and SET::NUP214 fusion.