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Published on: September 8, 2023
Precision oncology for advanced-stage adenocarcinoma of the appendix: comprehensive molecular characterisation
Sebastian Lange1,2, Hannah Lisiecki3, Simon Kreutzfeldt4,5
1Department of Internal Medicine II, Klinikum Rechts der Isar, TUM School of Medicine and Health, Technical University of Munich, Munich, Bavaria, Germany.
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.
Insights
Molecular profiling of appendiceal adenocarcinoma identified actionable alterations in most tumors, offering new therapeutic avenues for this rare cancer. Precision oncology can guide treatment for advanced appendiceal adenocarcinomas.
Area of Science:
- Oncology
- Genomics
- Precision Medicine
Background:
- Appendiceal adenocarcinoma is a rare malignancy.
- Limited therapeutic options exist for advanced stages.
Purpose of the Study:
- To identify actionable therapeutic alterations through molecular profiling.
- To assess the utility of precision oncology in appendiceal adenocarcinoma.
Main Methods:
- Retrospective analysis of 19 patients with advanced appendiceal adenocarcinoma.
- Utilized data from German precision oncology programs (2015-2021).
- Reported molecular features, tumor board recommendations, and treatment implementation.
Main Results:
- Potentially actionable alterations identified in 95% of tumors (e.g., ATM, PIK3CA, AKT1 mutations).
- Elevated tumor mutational burden observed in 26% of cases.
- 74% received molecularly-driven treatment recommendations; 11% received the recommended therapy.
Conclusions:
- Molecular profiling reveals actionable alterations in appendiceal adenocarcinomas.
- Precision oncology approaches hold promise for this rare cancer.
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