Assessment of Machine Learning of Breast Pathology Structures for Automated Differentiation of Breast Cancer and High-Risk Proliferative Lesions.

Importance: Following recent US Food and Drug Administration approval, adoption of whole slide imaging in clinical settings may be imminent, and diagnostic accuracy, particularly among challenging breast biopsy specimens, may benefit from computerized diagnostic support tools. Objective: To develop and evaluate computer vision methods to assist pathologists in diagnosing the full spectrum of breast biopsy samples, from benign to invasive cancer. Design, Setting, and Participants: In this diagnostic study, 240 breast biopsies from Breast Cancer Surveillance Consortium registries that varied by breast density, diagnosis, patient age, and biopsy type were selected, reviewed, and categorized by 3 expert pathologists as benign, atypia, ductal carcinoma in situ (DCIS), and invasive cancer. The atypia and DCIS cases were oversampled to increase statistical power. High-resolution digital slide images were obtained, and 2 automated image features (tissue distribution feature and structure feature) were developed and evaluated according to the consensus diagnosis of the expert panel. The performance of the automated image analysis methods was compared with independent interpretations from 87 practicing US pathologists. Data analysis was performed between February 2017 and February 2019. Main Outcomes and Measures: Diagnostic accuracy defined by consensus reference standard of 3 experienced breast pathologists. Results: The accuracy of machine learning tissue distribution features, structure features, and pathologists for classification of invasive cancer vs noninvasive cancer was 0.94, 0.91, and 0.98, respectively; the accuracy of classification of atypia and DCIS vs benign tissue was 0.70, 0.70, and 0.81, respectively; and the accuracy of classification of DCIS vs atypia was 0.83, 0.85, and 0.80, respectively. The sensitivity of both machine learning features was lower than that of the pathologists for the invasive vs noninvasive classification (tissue distribution feature, 0.70; structure feature, 0.49; pathologists, 0.84) but higher for the classification of atypia and DCIS vs benign cases (tissue distribution feature, 0.79; structure feature, 0.85; pathologists, 0.72) and the classification of DCIS vs atypia (tissue distribution feature, 0.88; structure feature, 0.89; pathologists, 0.70). For the DCIS vs atypia classification, the specificity of the machine learning feature classification was similar to that of the pathologists (tissue distribution feature, 0.78; structure feature, 0.80; pathologists, 0.82). Conclusion and Relevance: The computer-based automated approach to interpreting breast pathology showed promise, especially as a diagnostic aid in differentiating DCIS from atypical hyperplasia.