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Pan-cancer image-based detection of clinically actionable genetic alterations
Open accessPublished version of a preprint
Abstract
Molecular alterations in cancer can cause phenotypic changes in tumor cells and their micro-environment. Routine histopathology tissue slides - which are ubiquitously available - can reflect such morphological changes. Here, we show that deep learning can consistently infer a wide range of genetic mutations, molecular tumor subtypes, gene expression signatures and standard pathology biomarkers directly from routine histology. We developed, optimized, validated and publicly released a one-stop-shop workflow and applied it to tissue slides of more than 5000 patients across multiple solid tumors. Our findings show that a single deep learning algorithm can be trained to predict a wide range of molecular alterations from routine, paraffin-embedded histology slides stained with hematoxylin and eosin. These predictions generalize to other populations and are spatially resolved. Our method can be implemented on mobile hardware, potentially enabling point-of-care diagnostics for personalized cancer treatment. More generally, this approach could elucidate and quantify genotype-phenotype links in cancer.
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Metadata
- Authors
- Kather, J. N., Heij, L. R., Grabsch, H. I., Loeffler, C., Echle, A., Muti, H. S., Krause, J., Niehues, J. M., Sommer, K. A. J., Bankhead, P., Kooreman, L. F. S., Schulte, J. J., Cipriani, N. A., Buelow, R. D., Boor, P., Ortiz-Brüchle, N., Hanby, A. M., Speirs, V., Kochanny, S., Patnaik, A., Srisuwananukorn, A., Brenner, H., Hoffmeister, M., van den Brandt, P. A., Jäger, D., Trautwein, C., Pearson, A. T., & Luedde, T.
- Venue
- Nature Cancer
- Published
- 2020-07-27
- Volume
- 1
- Issue
- 8
- Pages
- 789-799
- ISSN
- 2662-1347 (ISSN-L)
- OpenAlex
- W3044996171
- Cited by
- 662
- References
- 24
- FWCI
- 32.30
- Type
- journal article
- Language
- en
- Update notices
- correction (2020-11-03)
- Open access
- hybrid
- Licence
- www.springernature.com/gp/researchers/text-and-data-mining (tdm)
- www.springernature.com/gp/researchers/text-and-data-mining (vor)
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