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Clinical Utility of Genomic Profiling Tests in Patients with Advanced Gastrointestinal Cancers
Hiroyuki Takeda1, Kiyomi Imoto2, Kumiko Umemoto1
1Department of Clinical Oncology, St. Marianna University School of Medicine, Kawasaki, Japan.
Background:
Comprehensive analyses of cancer-related genomic alterations are expected to lead to increased availability of targeted therapies. However, in patients with gastrointestinal (GI) cancers, the utility of genomic profiling is unclear because of common non-druggable alterations and rapid disease progression that prevent a sufficient time period to seek targets.
Objective:
The aim of this study was to determine the utility of genomic profiling tests in patients with GI cancers.
Methods:
The subjects of this retrospective study were patients with GI cancers and patients with non-GI cancers who underwent tissue-based genomic profiling at a single institution from April 2017 to October 2020. The profile of gene alterations, frequency of tumor mutational burden-high (≥ 10 Muts/Mb), and accessibility of recommended molecular targeted therapy were compared between patients with GI cancers and patients with non-GI cancers.
Results:
In all, 133 patients with GI cancers and 63 patients with non-GI cancers were included. The genomic profiles of GI cancers showed the highest frequencies of TP53, KRAS, and APC mutations and a significantly lower frequency of PIK3CA mutations than those of non-GI cancers. Tumor mutational burden-high was significantly less prevalent in GI cancers (4% vs 20%, p = 0.008). Twenty-nine patients with GI cancers (40%) and 35 patients with non-GI cancers (56%) were recommended for targeted therapies based on the findings. Among them, seven patients each with GI cancers and non-GI cancers received the recommended therapy on their genomic findings, which showed similar treatment accessibility between the GI and non-GI cancer groups (10% vs 11%, p = 0.791). HER2-targeted and BRAF-targeted therapies were the primary treatments administered to patients with GI cancers.
Conclusions:
Although their genomic profiles revealed fewer druggable sites, patients with GI cancers accessed targeted therapies similarly to patients with non-GI cancers. The utility of genomic profile testing in patients with GI cancers was highlighted to determine if patients can receive specific treatments, such as HER2-targeted and BRAF-targeted therapies.
Insights
Genomic profiling in gastrointestinal (GI) cancers identified fewer actionable targets but showed similar targeted therapy accessibility compared to other cancers. This testing is valuable for guiding specific treatments like HER2- and BRAF-targeted therapies in GI cancer patients.
Area of Science:
- Oncology
- Genomics
- Molecular Biology
Background:
- Genomic profiling is crucial for targeted cancer therapies.
- Utility of genomic profiling in gastrointestinal (GI) cancers is uncertain due to non-druggable alterations and rapid progression.
Purpose of the Study:
- To determine the utility of genomic profiling tests in patients with GI cancers.
Main Methods:
- Retrospective study comparing GI and non-GI cancer patients undergoing tissue-based genomic profiling.
- Analysis of gene alterations, tumor mutational burden-high (TMB-H), and targeted therapy recommendations.
Main Results:
- GI cancers showed distinct mutation profiles (e.g., high TP53, KRAS, APC; low PIK3CA) and lower TMB-H prevalence (4% vs. 20%).
- Targeted therapy recommendations were made for 40% of GI cancer patients and 56% of non-GI cancer patients.
- Similar treatment accessibility was observed (10% GI vs. 11% non-GI), with HER2- and BRAF-targeted therapies being primary for GI cancers.
Conclusions:
- Despite fewer druggable alterations, GI cancer patients accessed targeted therapies at rates comparable to non-GI cancer patients.
- Genomic profiling is valuable for identifying specific treatment options, including HER2- and BRAF-targeted therapies, for GI cancer patients.
