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IRF8 Deleterious Single Nucleotide Variations Are Associated with Unfavorable Survival of Patients with Skin Cutaneous Melanoma

Received: 18 August 2022     Accepted: 25 August 2022     Published: 27 August 2022
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Abstract

Interferon regulatory factor 8 (IRF8) is a transcription factor involved in the differentiation of myeloid progenitors. In the current study, we aimed to explore the correlation between IRF8 expression and immune cell infiltration in skin cutaneous melanoma, the single nucleotide variants (SNVs) of this gene, and their association with survival outcomes. Analyses are performed using data from The Cancer Genome Atlas (TCGA)-Skin Cutaneous Melanoma (SKCM), with the platform of Gene Set Cancer Analysis (GSCA). IRF8 expression has an infiltration score of 0.7, suggesting a strong correlation with immune cell infiltration. IRF8 expression had strong positive correlations (Pearson's r ≥ -0.6) with the infiltration of CD4+ T, CD8+ T, Central memory T, Cytotoxic T, T follicular helper, Th1 and induced Tregs cells but presented a strong negative correlation (Pearson's r ≤ -0.6) with the infiltration of Neutrophil cells. 8 out of 468 cases (1.71%) in TCGA-SKCM have deleterious SNVs. The IRF8 mutant group harboring these mutations had significantly shorter progression-free survival (P = 0.03), disease-specific survival (P = 0.0065), and overall survival (P = 0.039) compared to the group with wild-type IRF8. In summary, IRF8 expression might serve as an immune cell infiltration marker in skin cutaneous melanoma. IRF8 deleterious SNVs are associated with significantly worse prognosis. In the future, it is meaningful to validate the link between these mutations and immunotherapy responses.

Published in Clinical Medicine Research (Volume 11, Issue 4)
DOI 10.11648/j.cmr.20221104.14
Page(s) 109-113
Creative Commons

This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.

Copyright

Copyright © The Author(s), 2022. Published by Science Publishing Group

Keywords

IRF8, Skin Cutaneous Melanoma, SNVs, Immune Cell Infiltration, Prognosis

References
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  • APA Style

    Chunli Lu, Gan Liu. (2022). IRF8 Deleterious Single Nucleotide Variations Are Associated with Unfavorable Survival of Patients with Skin Cutaneous Melanoma. Clinical Medicine Research, 11(4), 109-113. https://doi.org/10.11648/j.cmr.20221104.14

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    ACS Style

    Chunli Lu; Gan Liu. IRF8 Deleterious Single Nucleotide Variations Are Associated with Unfavorable Survival of Patients with Skin Cutaneous Melanoma. Clin. Med. Res. 2022, 11(4), 109-113. doi: 10.11648/j.cmr.20221104.14

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    AMA Style

    Chunli Lu, Gan Liu. IRF8 Deleterious Single Nucleotide Variations Are Associated with Unfavorable Survival of Patients with Skin Cutaneous Melanoma. Clin Med Res. 2022;11(4):109-113. doi: 10.11648/j.cmr.20221104.14

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  • @article{10.11648/j.cmr.20221104.14,
      author = {Chunli Lu and Gan Liu},
      title = {IRF8 Deleterious Single Nucleotide Variations Are Associated with Unfavorable Survival of Patients with Skin Cutaneous Melanoma},
      journal = {Clinical Medicine Research},
      volume = {11},
      number = {4},
      pages = {109-113},
      doi = {10.11648/j.cmr.20221104.14},
      url = {https://doi.org/10.11648/j.cmr.20221104.14},
      eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.cmr.20221104.14},
      abstract = {Interferon regulatory factor 8 (IRF8) is a transcription factor involved in the differentiation of myeloid progenitors. In the current study, we aimed to explore the correlation between IRF8 expression and immune cell infiltration in skin cutaneous melanoma, the single nucleotide variants (SNVs) of this gene, and their association with survival outcomes. Analyses are performed using data from The Cancer Genome Atlas (TCGA)-Skin Cutaneous Melanoma (SKCM), with the platform of Gene Set Cancer Analysis (GSCA). IRF8 expression has an infiltration score of 0.7, suggesting a strong correlation with immune cell infiltration. IRF8 expression had strong positive correlations (Pearson's r ≥ -0.6) with the infiltration of CD4+ T, CD8+ T, Central memory T, Cytotoxic T, T follicular helper, Th1 and induced Tregs cells but presented a strong negative correlation (Pearson's r ≤ -0.6) with the infiltration of Neutrophil cells. 8 out of 468 cases (1.71%) in TCGA-SKCM have deleterious SNVs. The IRF8 mutant group harboring these mutations had significantly shorter progression-free survival (P = 0.03), disease-specific survival (P = 0.0065), and overall survival (P = 0.039) compared to the group with wild-type IRF8. In summary, IRF8 expression might serve as an immune cell infiltration marker in skin cutaneous melanoma. IRF8 deleterious SNVs are associated with significantly worse prognosis. In the future, it is meaningful to validate the link between these mutations and immunotherapy responses.},
     year = {2022}
    }
    

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  • TY  - JOUR
    T1  - IRF8 Deleterious Single Nucleotide Variations Are Associated with Unfavorable Survival of Patients with Skin Cutaneous Melanoma
    AU  - Chunli Lu
    AU  - Gan Liu
    Y1  - 2022/08/27
    PY  - 2022
    N1  - https://doi.org/10.11648/j.cmr.20221104.14
    DO  - 10.11648/j.cmr.20221104.14
    T2  - Clinical Medicine Research
    JF  - Clinical Medicine Research
    JO  - Clinical Medicine Research
    SP  - 109
    EP  - 113
    PB  - Science Publishing Group
    SN  - 2326-9057
    UR  - https://doi.org/10.11648/j.cmr.20221104.14
    AB  - Interferon regulatory factor 8 (IRF8) is a transcription factor involved in the differentiation of myeloid progenitors. In the current study, we aimed to explore the correlation between IRF8 expression and immune cell infiltration in skin cutaneous melanoma, the single nucleotide variants (SNVs) of this gene, and their association with survival outcomes. Analyses are performed using data from The Cancer Genome Atlas (TCGA)-Skin Cutaneous Melanoma (SKCM), with the platform of Gene Set Cancer Analysis (GSCA). IRF8 expression has an infiltration score of 0.7, suggesting a strong correlation with immune cell infiltration. IRF8 expression had strong positive correlations (Pearson's r ≥ -0.6) with the infiltration of CD4+ T, CD8+ T, Central memory T, Cytotoxic T, T follicular helper, Th1 and induced Tregs cells but presented a strong negative correlation (Pearson's r ≤ -0.6) with the infiltration of Neutrophil cells. 8 out of 468 cases (1.71%) in TCGA-SKCM have deleterious SNVs. The IRF8 mutant group harboring these mutations had significantly shorter progression-free survival (P = 0.03), disease-specific survival (P = 0.0065), and overall survival (P = 0.039) compared to the group with wild-type IRF8. In summary, IRF8 expression might serve as an immune cell infiltration marker in skin cutaneous melanoma. IRF8 deleterious SNVs are associated with significantly worse prognosis. In the future, it is meaningful to validate the link between these mutations and immunotherapy responses.
    VL  - 11
    IS  - 4
    ER  - 

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Author Information
  • Department of Cosmetic Dermatology, the Second People’s Hospital of Neijiang, Neijiang, China

  • Department of Cosmetic Dermatology, the First People’s Hospital of Neijiang, Neijiang, China

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