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The 5q-anomaly.

H Van den Berghe, K Vermaelen, C Mecucci

    Cancer Genetics and Cytogenetics
    |July 1, 1985
    PubMed
    Summary
    This summary is machine-generated.

    The deletion of chromosome 5 long arm (5q-) is a common anomaly in human cancers, particularly myelodysplastic syndromes and acute nonlymphocytic leukemia. This genetic alteration indicates a poor prognosis and may be linked to environmental factors.

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    Area of Science:

    • Cytogenetics
    • Oncology
    • Hematology

    Background:

    • The deletion of the long arm of chromosome 5 (5q-) is a nonrandom finding in human malignancies.
    • It is frequently observed as the sole anomaly in refractory anemia with or without excess of blasts (MDS).
    • 5q- can also occur in acute nonlymphocytic leukemia (ANLL), both de novo and secondary, often with additional chromosomal abnormalities.

    Purpose of the Study:

    • To investigate the role and characteristics of the 5q- anomaly in various human malignancies.
    • To compare de novo and secondary 5q- related disorders.
    • To assess the clinical significance and prognostic implications of the 5q- deletion.

    Main Methods:

    • Conventional cytogenetic techniques to identify chromosomal breakpoints.

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  • Analysis of patient data including clinical features, cytogenetics, and treatment response.
  • Comparison of cytogenetic and clinical data across different types of malignancies.

    • Main Results:

    • The 5q- deletion typically involves interstitial deletion with breakpoints in specific chromosome bands (q12/q14 and q32).
    • 5q- MDS predominantly affects older females, presenting with macrocytic anemia and normal/elevated platelets.
    • 5q- is the most frequent single chromosomal anomaly in secondary leukemia; de novo and secondary 5q- MDS/ANLL are clinically and cytogenetically similar, suggesting potential environmental causes.
    • Prognosis is poor for both de novo and secondary 5q- ANLL, with limited response to current therapies.

    Conclusions:

    • The 5q- anomaly is a significant cytogenetic marker in hematologic malignancies, particularly MDS and ANLL.
    • The striking similarity between de novo and secondary 5q- disorders suggests a common etiology, possibly environmental exposures.
    • The 5q- anomaly likely arises in a myeloid precursor stem cell, with rare occurrences in lymphoid malignancies indicating a potential common progenitor cell.