{
  "abstract": "Objective 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.Methods 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.Results 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.Conclusion Molecular profiling of appendiceal adenocarcinomas revealed potentially actionable alterations in a number of cases.",
  "authors": [
    {
      "affiliations": [
        "Department of Internal Medicine II, Klinikum Rechts der Isar, TUM School of Medicine and Health, Technical University of Munich, Munich, Bavaria, Germany",
        "Institute of Molecular Oncology and Functional Genomics, TUM School of Medicine and Health, Technische Universität München, Munich, Germany"
      ],
      "name": "Sebastian Lange"
    },
    {
      "affiliations": [
        "Institute of Pathology, TUM School of Medicine and Health, Technical University of Munich, Munich, Bavaria, Germany"
      ],
      "name": "Hannah Lisiecki"
    },
    {
      "affiliations": [
        "Division of Translational Medical Oncology, German Cancer Research Center (DKFZ), Heidelberg, Baden-Würrtemberg, Germany",
        "National Center for Tumor Diseases (NCT), NCT Heidelberg, a partnership between DKFZ and Heidelberg University Hospital, Heidelberg, Baden-Württemberg, Germany"
      ],
      "name": "Simon Kreutzfeldt"
    },
    {
      "affiliations": [
        "Department for Translational Medical Oncology, National Center for Tumor Diseases (NCT) Dresden and German Cancer Research Center (DKFZ), Dresden, Saxony, Germany",
        "German Cancer Consortium (DKTK), Heidelberg, Baden-Württemberg, Germany",
        "Center for Personalized Oncology, National Center for Tumor Diseases Dresden (NCT) and University Hospital Carl Gustav Carus, Faculty of Medicine and Technische Universität Dresden, Dresden, Germany"
      ],
      "name": "Christoph Heining"
    },
    {
      "affiliations": [
        "Department of Medicine III, LMU Klinikum, Munich, Bavaria, Germany"
      ],
      "name": "Lena Weiss"
    },
    {
      "affiliations": [
        "German Cancer Consortium (DKTK), Heidelberg, Baden-Württemberg, Germany",
        "Department of Medicine III, LMU Klinikum, Munich, Bavaria, Germany",
        "Comprehensive Cancer Center (CCC Munich LMU), LMU University Hospital Munich, Munich, Germany"
      ],
      "name": "Christoph Benedikt Westphalen"
    },
    {
      "affiliations": [
        "Institute of Pathology, University Hospital Heidelberg, Heidelberg, Baden-Württemberg, Germany"
      ],
      "name": "Albrecht Stenzinger"
    },
    {
      "affiliations": [
        "German Cancer Consortium (DKTK), Heidelberg, Baden-Württemberg, Germany",
        "Computational Oncology, Molecular Precision Oncology Program, National Center for Tumor Diseases (NCT) Heidelberg and German Cancer Research Center (DKFZ), Heidelberg, Germany",
        "Heidelberg Institute for Stem Cell Technology and Experimental Medicine (HI-STEM), Heidelberg, Germany"
      ],
      "name": "Daniel Hübschmann"
    },
    {
      "affiliations": [
        "Institute of Pathology, University Hospital Marburg, Marburg, Hesse, Germany"
      ],
      "name": "Moritz Jesinghaus"
    },
    {
      "affiliations": [
        "Department for Translational Medical Oncology, National Center for Tumor Diseases (NCT) Dresden and German Cancer Research Center (DKFZ), Dresden, Saxony, Germany",
        "German Cancer Consortium (DKTK), Heidelberg, Baden-Württemberg, Germany",
        "Center for Personalized Oncology, National Center for Tumor Diseases Dresden (NCT) and University Hospital Carl Gustav Carus, Faculty of Medicine and Technische Universität Dresden, Dresden, Germany",
        "Translational Functional Cancer Genomics, National Center for Tumor Diseases (NCT) and German Cancer Research Center (DKFZ), Heidelberg, Germany"
      ],
      "name": "Hanno Glimm"
    },
    {
      "affiliations": [
        "Division of Translational Medical Oncology, German Cancer Research Center (DKFZ), Heidelberg, Baden-Würrtemberg, Germany",
        "National Center for Tumor Diseases (NCT), NCT Heidelberg, a partnership between DKFZ and Heidelberg University Hospital, Heidelberg, Baden-Württemberg, Germany",
        "German Cancer Consortium (DKTK), Heidelberg, Baden-Württemberg, Germany",
        "Institute of Human Genetics, Heidelberg University, Heidelberg, Germany"
      ],
      "name": "Stefan Fröhling"
    },
    {
      "affiliations": [
        "Institute of Pathology, TUM School of Medicine and Health, Technical University of Munich, Munich, Bavaria, Germany"
      ],
      "name": "Nicole Pfarr"
    },
    {
      "affiliations": [
        "Institute of Pathology, TUM School of Medicine and Health, Technical University of Munich, Munich, Bavaria, Germany",
        "German Cancer Consortium (DKTK), Heidelberg, Baden-Württemberg, Germany"
      ],
      "name": "Anna Melissa Schlitter"
    }
  ],
  "title": "Precision oncology for advanced-stage adenocarcinoma of the appendix: comprehensive molecular characterisation identifies actionable lesions and potential predictive biomarkers",
  "uid": "a4f49513-4329-550a-96ee-a372ad0b8b16"
}