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@ARTICLE{Kuhn:277430,
      author       = {C. K. Kuhn and J. Meister and S. Kreft$^*$ and M. Stiller
                      and S.-H. Puppel and A. Zaremba$^*$ and B. Scheffler$^*$ and
                      V. Ullrich$^*$ and T. Schöneberg and D. Schadendorf$^*$ and
                      S. Horn$^*$},
      title        = {{TERT} expression is associated with metastasis from thin
                      primaries, exhausted {CD}4+ {T} cells in melanoma and with
                      {DNA} repair across cancer entities.},
      journal      = {PLOS ONE},
      volume       = {18},
      number       = {7},
      issn         = {1932-6203},
      address      = {San Francisco, California, US},
      publisher    = {PLOS},
      reportid     = {DKFZ-2023-01367},
      pages        = {e0281487 -},
      year         = {2023},
      abstract     = {Telomerase reverse transcriptase (TERT) promoter mutations
                      occur frequently in cancer, have been associated with
                      increased TERT expression and cell proliferation, and could
                      potentially influence therapeutic regimens for melanoma. As
                      the role of TERT expression in malignant melanoma and the
                      non-canonical functions of TERT remain understudied, we
                      aimed to extend the current knowledge on the impact of TERT
                      promoter mutations and expression alterations in tumor
                      progression by analyzing several highly annotated melanoma
                      cohorts. Using multivariate models, we found no consistent
                      association for TERT promoter mutations or TERT expression
                      with the survival rate in melanoma cohorts under immune
                      checkpoint inhibition. However, the presence of CD4+ T cells
                      increased with TERT expression and correlated with the
                      expression of exhaustion markers. While the frequency of
                      promoter mutations did not change with Breslow thickness,
                      TERT expression was increased in metastases arising from
                      thinner primaries. As single-cell RNA-sequencing (RNA-seq)
                      showed that TERT expression was associated with genes
                      involved in cell migration and dynamics of the extracellular
                      matrix, this suggests a role of TERT during invasion and
                      metastasis. Co-regulated genes found in several bulk tumors
                      and single-cell RNA-seq cohorts also indicated non-canonical
                      functions of TERT related to mitochondrial DNA stability and
                      nuclear DNA repair. This pattern was also evident in
                      glioblastoma and across other entities. Hence, our study
                      adds to the role of TERT expression in cancer metastasis and
                      potentially also immune resistance.},
      keywords     = {Humans / CD4-Positive T-Lymphocytes: pathology / Melanoma:
                      genetics / Melanoma: pathology / Skin Neoplasms: genetics /
                      Skin Neoplasms: pathology / Promoter Regions, Genetic /
                      Mutation / DNA Repair: genetics / Telomerase: genetics /
                      Telomerase (NLM Chemicals) / TERT protein, human (NLM
                      Chemicals)},
      cin          = {ED01},
      ddc          = {610},
      cid          = {I:(DE-He78)ED01-20160331},
      pnm          = {899 - ohne Topic (POF4-899)},
      pid          = {G:(DE-HGF)POF4-899},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:37418389},
      pmc          = {pmc:PMC10328343},
      doi          = {10.1371/journal.pone.0281487},
      url          = {https://inrepo02.dkfz.de/record/277430},
}