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Deep learning (DL) can accelerate the prediction of prognostic biomarkers from routine pathology slides in colorectal cancer (CRC). However, current approaches rely on convolutional neural networks (CNNs) and have mostly been validated on small patient cohorts. Here, we develop a new transformer-based pipeline for end-to-end biomarker prediction from pathology slides by combining a pre-trained transformer encoder with a transformer network for patch aggregation. Our transformer-based approach substantially improves the performance, generalizability, data efficiency, and interpretability as compared with current state-of-the-art algorithms. After training and evaluating on a large multicenter cohort of over 13,000 patients from 16 colorectal cancer cohorts, we achieve a sensitivity of 0.99 with a negative predictive value of over 0.99 for prediction of microsatellite instability (MSI) on surgical resection specimens. We demonstrate that resection specimen-only training reaches clinical-grade performance on endoscopic biopsy tissue, solving a long-standing diagnostic problem.

Original publication

DOI

10.1016/j.ccell.2023.08.002

Type

Journal article

Journal

Cancer cell

Publication Date

08/2023

Addresses

Helmholtz Munich - German Research Center for Environment and Health, Munich, Germany; School of Computation, Information and Technology, Technical University of Munich, Munich, Germany; Else Kroener Fresenius Center for Digital Health (EFFZ), Technical University Dresden, Dresden, Germany.

Keywords

TransSCOT consortium