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@ARTICLE{Teleanu:271249,
      author       = {M.-V. Teleanu$^*$ and C. T. Fuss and N. Paramasivam and S.
                      Pirmann and A. Mock$^*$ and C. Terkamp and S. Kircher and
                      L.-S. Landwehr and C. Lenschow and N. Schlegel and A.
                      Stenzinger and A. Jahn and M. Fassnacht and H. Glimm$^*$ and
                      D. Hübschmann and S. Fröhling$^*$ and M. Kroiss},
      title        = {{T}argeted therapy of advanced parathyroid carcinoma guided
                      by genomic and transcriptomic profiling.},
      journal      = {Molecular oncology},
      volume       = {17},
      number       = {7},
      issn         = {1574-7891},
      address      = {Hoboken, NJ},
      publisher    = {John Wiley $\&$ Sons, Inc.},
      reportid     = {DKFZ-2023-00381},
      pages        = {1343-1355},
      year         = {2023},
      note         = {#EA:B340#LA:B340# / 2023 Jul;17(7):1343-1355},
      abstract     = {Parathyroid carcinoma (PC) is an ultra-rare malignancy with
                      a high risk of recurrence after surgery. Tumor-directed
                      systemic treatments for PC are not established. We used
                      whole-genome and RNA sequencing in four patients with
                      advanced PC to identify molecular alterations that could
                      guide clinical management. In two cases, the genomic and
                      transcriptomic profiles provided targets for experimental
                      therapies that resulted in biochemical response and
                      prolonged disease stabilization: (i) immune checkpoint
                      inhibition with pembrolizumab based on high tumor mutational
                      burden and a single-base substitution signature associated
                      with APOBEC (apolipoprotein B mRNA editing enzyme, catalytic
                      polypeptide-like) overactivation; (ii) multi-receptor
                      tyrosine kinase inhibition with lenvatinib due to
                      overexpression of FGFR1 (Fibroblast Growth Factor Receptor
                      1) and RET (Ret Proto-Oncogene) and, later in the course of
                      the disease, PARP (Poly(ADP-Ribose) Polymerase) inhibition
                      with olaparib prompted by signs of defective homologous
                      recombination DNA repair. In addition, our data provided new
                      insights into the molecular landscape of PC with respect to
                      the genome-wide footprints of specific mutational processes
                      and pathogenic germline alterations. These data underscore
                      the potential of comprehensive molecular analyses to improve
                      care for patients with ultra-rare cancers based on insight
                      into disease biology.},
      keywords     = {RNA sequencing (Other) / Whole-genome sequencing (Other) /
                      immune checkpoint inhibition (Other) / mutational signature
                      (Other) / tumor mutational burden (Other) / tyrosine kinase
                      inhibition (Other)},
      cin          = {B340 / DD01 / HD01 / B280},
      ddc          = {610},
      cid          = {I:(DE-He78)B340-20160331 / I:(DE-He78)DD01-20160331 /
                      I:(DE-He78)HD01-20160331 / I:(DE-He78)B280-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:36808802},
      doi          = {10.1002/1878-0261.13398},
      url          = {https://inrepo02.dkfz.de/record/271249},
}