Immunophenotypic and cytogenetic changes in acute leukaemia at relapse

M Hur1, Y H Chang, D S Lee

  • 1Department of Clinical Pathology, Seoul National University College of Medicine, Seoul, Korea.

Insights

Acute leukaemia relapse shows increased aberrant markers and cytogenetic changes, particularly in B lineage acute lymphoblastic leukaemia (ALL). Younger ALL patients exhibit more clonal instability at relapse, suggesting distinct disease evolution pathways.

Area of Science:

  • Hematology
  • Oncology
  • Molecular Biology

Background:

  • Relapse in acute leukaemia often involves significant biological changes.
  • Understanding these changes is crucial for developing targeted therapies.

Purpose of the Study:

  • To investigate immunophenotypic and cytogenetic alterations in acute leukaemia at relapse.
  • To compare these changes between acute myelogenous leukaemia (AML) and acute lymphoblastic leukaemia (ALL).

Main Methods:

  • Retrospective analysis of 99 Korean patients with acute leukaemia.
  • Immunophenotyping and cytogenetic analysis at initial diagnosis and relapse.

Main Results:

  • Over 50% of patients showed immunophenotypic changes at relapse, with increased aberrant marker expression, especially in B lineage ALL.
  • Cytogenetic changes were observed in over 60% of patients, more frequent in B lineage ALL than AML.
  • Younger ALL patients with cytogenetic changes at relapse were identified.

Conclusions:

  • Relapse in acute leukaemia is characterized by clonal instability, evidenced by aberrant marker gain and cytogenetic changes.
  • B lineage ALL demonstrates a higher propensity for these changes compared to AML.
  • Younger patients with ALL are more susceptible to relapse-associated clonal evolution.