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Optimization of guidelines for Risk Of Recurrence/Prosigna testing using a machine learning model: a Swedish
Una Kjällquist1, Nikos Tsiknakis2, Balazs Acs1
1Department of Oncology/Pathology, Karolinska Institutet, Stockholm, Sweden; Theme Cancer, Karolinska University Hospital, Stockholm, Sweden.
Machine learning improves patient selection for gene expression profiling in hormone receptor-positive, HER2-negative breast cancer. This approach enhances risk stratification accuracy and reduces unnecessary testing for the Risk of Recurrence (ROR)/Prosigna assay.
Area of Science:
- Oncology
- Bioinformatics
- Machine Learning
Background:
- Gene expression profiling aids treatment decisions in adjuvant hormone receptor-positive, HER2-negative breast cancer.
- Existing optimization algorithms focus on RS/Oncotype Dx, not the ROR/Prosigna assay.
- Accurate patient selection for genomic assays is crucial for optimizing adjuvant therapy.
Purpose of the Study:
- To develop and validate a machine learning model for enhanced pre-selection of patients for ROR/Prosigna testing.
- To improve the accuracy of risk stratification in HR+/HER2- breast cancer.
- To reduce the number of patients requiring ROR/Prosigna testing through better pre-selection.
Main Methods:
- A machine learning model was developed using prognostic factors (tumor size, progesterone receptor expression, grade, Ki67) in 348 postmenopausal women.
- The model predicted ROR/Prosigna output for patients with resected HR+/HER2- node-negative breast cancer.
- Performance was compared to existing risk stratification schemes regarding over- and undertreatment.
Main Results:
- The machine learning model demonstrated strong predictive performance with AUCs of 0.77 (training) and 0.83 (validation) for predicting chemotherapy indication.
- Validated upper and lower cut-offs improved risk stratification accuracy for low, intermediate, and high-risk disease.
- The model significantly reduced the proportion of patients needing ROR/Prosigna testing compared to current methods.
Conclusions:
- Machine learning algorithms can effectively enhance patient selection for gene expression profiling.
- The developed model improves risk stratification and reduces unnecessary testing for ROR/Prosigna.
- Further external validation is recommended to confirm the generalizability of these findings.
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