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Acquired inversions in human leucocytes.

A Aurias, B Dutrillaux

    Annales De Genetique
    |January 1, 1986
    PubMed
    Summary
    This summary is machine-generated.

    Human leukocyte inversions are categorized by frequency, with specific types linked to ataxia telangiectasia (AT) and various cancers, offering diagnostic and prognostic insights.

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    Area of Science:

    • Cytogenetics
    • Human Genetics
    • Cancer Biology

    Background:

    • Peri- and paracentric inversions occur in human leukocytes with varying frequencies.
    • These inversions can be classified into four categories based on their occurrence rates.
    • Specific inversions are associated with normal genetic constitutions, radiation sensitivity, and cancer predisposition.

    Purpose of the Study:

    • To categorize human leukocyte inversions based on frequency.
    • To explore the association of specific inversions with genetic disorders and cancers.
    • To discuss the diagnostic and prognostic significance of these chromosomal abnormalities.

    Main Methods:

    • Frequency analysis of peri- and paracentric inversions in human leukocytes.
    • Categorization of inversions based on occurrence rates (f).

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  • Correlation of specific inversions with clinical conditions such as ataxia telangiectasia (AT) and various leukemias.

    • Main Results:

    • Four categories of inversions were proposed based on frequency.
    • Category 2 (f ≈ 0.001) includes inv(14)(q12qter) and inv(7)(p14q35) in normal individuals.
    • Category 3 (f ≈ 0.01) links inv(7)(p14q35) to ataxia telangiectasia (AT), indicating radiation sensitivity and cancer predisposition.
    • Category 4 (f ≥ 0.1) involves inversions in precancerous or cancerous cells, including inv(14)(q11.2q32.2) in AT with T-cell hemopathy, inv(14)(q12qter) in chronic T-cell lymphocytic leukemia, and inv(16)(p13q22) in acute myelomonocytic leukemia.

    Conclusions:

    • Human leukocyte inversions can be classified into four frequency-based categories.
    • Certain inversions are indicative of abnormal genetic constitutions, radiation sensitivity, and predisposition to cancers.
    • Specific inversions like inv(14) and inv(16) have diagnostic and prognostic value in hematologic malignancies and AT.