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Biphenotypic acute leukemia: a case report.

A Zucchini1, P P Fattori, F Lanza

  • 1Center of Cytometry and Cytomorphology, Urbino, Italy. alezucchini@hotmail.it

Journal of Biological Regulators and Homeostatic Agents
|March 25, 2005
PubMed
Summary
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This study details a rare case of biphenotypic acute leukemia (BAL) with both myeloid and lymphoid markers. Personalized treatment strategies based on immunophenotype and gene profiles are crucial for improving outcomes in BAL patients.

Area of Science:

  • Hematology
  • Oncology
  • Immunology

Background:

  • Biphenotypic acute leukemia (BAL) is a rare hematologic malignancy characterized by the co-expression of myeloid and lymphoid lineage markers on leukemic blasts.
  • Accurate diagnosis and classification of BAL are essential for appropriate treatment selection and patient management.

Observation:

  • A 49-year-old male presented with two distinct blast populations in peripheral blood and bone marrow, exhibiting morphological features of both lymphoblasts and myeloblasts.
  • Cytochemical myeloperoxidase staining was negative in both cell types. Conventional cytogenetics revealed a normal karyotype (46,XY).
  • Immunophenotypic analysis demonstrated co-expression of lymphoid markers (CD19, CD79α, CD22, TdT) and myeloid markers (CD13, CD117, CD15, CD33) on the blastic populations.

Findings:

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  • Gene rearrangement analysis showed a clonal rearrangement of immunoglobulin heavy chain (Ig-H) genes with a germline configuration of T-cell receptor (TCR) gamma chain genes.
  • The diagnosis of BAL was confirmed based on European Group of Immunological Classification of Leukemias (EGIL) and World Health Organization (WHO) criteria.
  • The patient received AML induction therapy and autologous stem cell transplantation, but experienced early relapse with a relapse-free survival of 6 months.

    • Implications:

    • This case highlights the diagnostic challenges and aggressive nature of BAL.
    • Risk stratification incorporating immunophenotype and gene rearrangement profiles is recommended for tailoring treatment strategies in BAL patients.
    • Further research into novel therapeutic approaches is warranted for this challenging leukemia subtype.