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Related Experiment Videos

Genotypic analysis of cutaneous T-cell lymphomas.

E Ralfkiaer, N T O'Connor, J Crick

    The Journal of Investigative Dermatology
    |June 1, 1987
    PubMed
    Summary

    DNA analysis of the T-cell receptor (TCR) beta-chain gene helps diagnose advanced cutaneous T-cell lymphoma (CTCL). Rearrangement indicates CTCL, while germline configuration suggests early or non-neoplastic T-cell proliferation.

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    Malignant Tregs express low molecular splice forms of FOXP3 in Sézary syndrome.

    Leukemia·2008

    Area of Science:

    • Oncology
    • Immunology
    • Molecular Biology

    Background:

    • Cutaneous T-cell lymphoma (CTCL) diagnosis can be challenging, especially in early or advanced stages.
    • Identifying neoplastic T-cells is crucial for accurate diagnosis and treatment.
    • The T-cell receptor (TCR) beta-chain gene is a key marker for T-cell clonality.

    Purpose of the Study:

    • To investigate the utility of TCR beta-chain gene rearrangement analysis in diagnosing CTCL.
    • To differentiate between neoplastic and reactive T-cell proliferations in skin, blood, and lymph nodes.
    • To assess the diagnostic value of this method in various stages of CTCL.

    Main Methods:

    • DNA was extracted from skin, blood, and lymph node specimens of 23 patients with known or suspected CTCL.

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  • T-cell receptor (TCR) beta-chain gene rearrangement was analyzed using Southern blotting or PCR.
  • Histopathological examination of lymph nodes was performed concurrently.

    • Main Results:

    • Clonal rearrangement of the TCR beta-chain gene was detected in all samples from patients with advanced CTCL, including Sézary syndrome and mycosis fungoides (tumor stage).
    • This rearrangement was present even in lymph nodes showing only dermatopathic lymphadenitis.
    • In contrast, patients with plaque-stage mycosis fungoides or suspected early CTCL showed a germline configuration of the TCR beta-chain gene.

    Conclusions:

    • DNA analysis of TCR beta-chain gene rearrangement is a valuable tool for diagnosing extracutaneous involvement in advanced CTCL.
    • This molecular method aids in distinguishing neoplastic T-cell clones from polyclonal or oligoclonal proliferations.
    • The findings support the use of TCR gene rearrangement analysis for improving CTCL diagnosis and management.