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@ARTICLE{Lange:303976,
      author       = {S. Lange and H. Lisiecki and S. Kreutzfeldt$^*$ and C.
                      Heining$^*$ and L. Weiss and C. B. Westphalen$^*$ and A.
                      Stenzinger and D. Hübschmann$^*$ and M. Jesinghaus and H.
                      Glimm$^*$ and S. Fröhling$^*$ and N. Pfarr and A. M.
                      Schlitter$^*$},
      title        = {{P}recision oncology for advanced-stage adenocarcinoma of
                      the appendix: comprehensive molecular characterisation
                      identifies actionable lesions and potential predictive
                      biomarkers.},
      journal      = {BMJ open gastroenterology},
      volume       = {12},
      number       = {1},
      issn         = {2054-4774},
      address      = {London},
      publisher    = {BMJ Publishing Group},
      reportid     = {DKFZ-2025-01745},
      pages        = {e001671},
      year         = {2025},
      abstract     = {Appendiceal adenocarcinoma is a rare cancer with very
                      limited therapeutic options. We aimed to determine whether
                      molecular profiling of advanced appendiceal adenocancer can
                      identify actionable therapeutic alterations.We
                      retrospectively analysed cohorts from two large German
                      precision oncology programmes. Patient records and pathology
                      reports from 19 patients with advanced appendiceal
                      adenocarcinoma who were enrolled between 2015 and 2021 were
                      included in this study. We report the molecular features,
                      the resulting molecular tumour board recommendations and
                      their clinical implementation.In $95\%$ of the tumours, at
                      least one potentially actionable alteration was identified,
                      including mutations in ATM, PIK3CA and AKT1. An elevated
                      tumour mutational burden was identified in $26\%$ of the
                      tumours. A total of $74\%$ of all patients received a
                      molecularly driven treatment recommendation, of which 2
                      $(11\%)$ received the recommended therapy.Molecular
                      profiling of appendiceal adenocarcinomas revealed
                      potentially actionable alterations in a number of cases.},
      keywords     = {Humans / Appendiceal Neoplasms: genetics / Appendiceal
                      Neoplasms: pathology / Appendiceal Neoplasms: therapy /
                      Female / Male / Adenocarcinoma: genetics / Adenocarcinoma:
                      pathology / Adenocarcinoma: therapy / Adenocarcinoma: drug
                      therapy / Retrospective Studies / Middle Aged / Precision
                      Medicine: methods / Aged / Biomarkers, Tumor: genetics /
                      Mutation / Class I Phosphatidylinositol 3-Kinases: genetics
                      / Adult / Neoplasm Staging / Aged, 80 and over / Ataxia
                      Telangiectasia Mutated Proteins: genetics / Proto-Oncogene
                      Proteins c-akt: genetics / Germany / CANCER (Other) /
                      COLORECTAL NEOPLASIA (Other) / MOLECULAR PATHOLOGY (Other) /
                      Biomarkers, Tumor (NLM Chemicals) / Class I
                      Phosphatidylinositol 3-Kinases (NLM Chemicals) / PIK3CA
                      protein, human (NLM Chemicals) / Ataxia Telangiectasia
                      Mutated Proteins (NLM Chemicals) / ATM protein, human (NLM
                      Chemicals) / Proto-Oncogene Proteins c-akt (NLM Chemicals)},
      cin          = {B340 / MU01 / HD01 / W015 / DD01},
      ddc          = {610},
      cid          = {I:(DE-He78)B340-20160331 / I:(DE-He78)MU01-20160331 /
                      I:(DE-He78)HD01-20160331 / I:(DE-He78)W015-20160331 /
                      I:(DE-He78)DD01-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:40840958},
      doi          = {10.1136/bmjgast-2024-001671},
      url          = {https://inrepo02.dkfz.de/record/303976},
}