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Related Experiment Videos

del(2)(p23): a consistent recurrent abnormality in acute myelogenous leukemia.

R S Verma1, M J Macera, M da Costa

  • 1Division of Genetics, Long Island College Hospital, Brooklyn, N.Y. 11201.

Cancer Genetics and Cytogenetics
|December 1, 1991
PubMed
Summary

This study presents a rare case of acute myelogenous leukemia (AML-M2) with a unique chromosomal abnormality, del(2)(p23),t(8;21)(q22;q22). This finding suggests a potential new subset of AML (M2) requiring further investigation.

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Area of Science:

  • Hematology
  • Cytogenetics
  • Oncology

Background:

  • Acute myelogenous leukemia (AML) is a heterogeneous neoplastic disorder of hematopoietic stem cells.
  • The t(8;21)(q22;q22) translocation is a common cytogenetic abnormality in AML, particularly in the M2 subtype.
  • Understanding specific chromosomal aberrations is crucial for accurate diagnosis and classification of AML.

Observation:

  • A case of AML-M2 is described with an unusual combined chromosomal abnormality: del(2)(p23) and t(8;21)(q22;q22).
  • The partial deletion of the short arm of chromosome 2 (2p23) was observed alongside the characteristic 8;21 translocation.
  • This specific combination, 46,XX,del(2)(p23),t(8;21)(q22;q22), has not been previously reported.

Findings:

  • The deletion at 2p23 has been previously noted in other AML cases, either as a sole abnormality or with other chromosomal changes.

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  • The nonrandom occurrence of del(2)(p23) suggests its potential role in leukemic transformation.
  • The co-occurrence with t(8;21) indicates a possible synergistic effect in leukemogenesis.

    • Implications:

    • The del(2)(p23),t(8;21)(q22;q22) abnormality may represent a distinct subset of AML (M2).
    • This finding warrants further research to elucidate its prognostic significance and therapeutic implications.
    • Classification of AML may need refinement to include such specific cytogenetic profiles.