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Treatment and Reasons for Choosing Treatment in Breast Cancer Patients Who Underwent Next-Generation Sequencing Test
Rumi Nishimura, Kazuki Sudo1,2, Rui Kitadai1,3
1Department of Medical Oncology, National Cancer Center Hospital, Chuo-ku, Japan.
Introduction:
Next-generation sequencing (NGS) is commonly used in clinical practice to decide treatment based on genomic information. This study was performed to optimize the proportion of actionable gene profiling and treatment based on genetic alterations in breast cancer at one of the cancer centers in Japan.
Methods:
Patients with breast cancer who reported NGS results at one of the cancer centers in Japan from August 2019 to December 2023 were retrospectively investigated by reviewing their electronic medical records. Patients were examined using the OncoGuide™ NCC Oncopanel System, FoundationOne® CDx, or FoundationOne® Liquid CDx. The evidence levels for drug recommendation were added for each gene alteration according to the guidelines from three Japanese oncology-related societies. "Actionable alterations" were those at evidence levels A-D, including high microsatellite instability and high tumor mutation burden status. "Patients with recommended drug" (approved, investigational, and off-label drugs) were defined as those who were selected by the Molecular Tumor Board.
Results:
Of the 106 patients, 54 were tested using the NCC Oncopanel System and 50 using FoundationOne CDx. The most frequent alterations were TP53 mutations (52.8%) and PIK3CA mutations (31.1%). Of the 56 patients (52.8%) with recommended drugs, 11 (10.4%) received genome-matched therapy and only three (2.8%) participated in clinical trials. The most common reason for not receiving genome-matched therapy was patient refusal for personal reasons, although clinical trials were available (18 patients).
Conclusion:
The top reasons for patients not receiving the recommended genome-matched therapy were factors related to the patient, including a number of prior treatments higher than what was allowed by the eligibility criteria of the clinical trials, and poor physical condition. Most patients received four or more regimens of cytotoxic chemotherapy before NGS. NGS is only available at the late phase of treatment in Japan, which would constitute a problem for the treatment of breast cancer.
Insights
Next-generation sequencing (NGS) in breast cancer identified actionable genomic alterations, but few patients received genome-matched therapy due to patient factors and late-stage testing. Optimizing NGS utilization is crucial for effective cancer treatment in Japan.
Area of Science:
- Oncology
- Genomics
- Clinical Practice
Background:
- Next-generation sequencing (NGS) is integral to clinical decision-making in cancer treatment based on genomic profiles.
- Optimizing the use of actionable gene profiling and targeted therapies for breast cancer is essential.
Purpose of the Study:
- To evaluate the proportion of actionable gene alterations identified through NGS in Japanese breast cancer patients.
- To assess the uptake of genome-matched therapies based on NGS results.
- To identify barriers to receiving recommended targeted treatments.
Main Methods:
- Retrospective analysis of electronic medical records for 106 breast cancer patients who underwent NGS testing.
- Utilized OncoGuide™ NCC Oncopanel System or FoundationOne® assays.
- Classified actionable alterations based on Japanese oncology society guidelines and evidence levels.
Main Results:
- TP53 and PIK3CA mutations were the most frequent alterations.
- 52.8% of patients had recommended drugs, but only 10.4% received genome-matched therapy.
- Patient refusal and poor physical condition were primary reasons for not receiving therapy, despite available clinical trials.
Conclusions:
- Patient-related factors, including prior treatment history and physical condition, significantly impede genome-matched therapy uptake.
- NGS is often utilized late in the treatment course in Japan, limiting its benefit.
- Improving access and timing of NGS is critical for advancing breast cancer care.
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