Pan-cancer image-based detection of clinically actionable genetic alterations

Research output: Contribution to journalResearch articleContributedpeer-review

Contributors

  • Jakob Nikolas Kather - , RWTH Aachen University, Heidelberg University  (Author)
  • Lara R. Heij - , RWTH Aachen University, Maastricht University (Author)
  • Heike I. Grabsch - , Maastricht University, University of Leeds (Author)
  • Chiara Loeffler - , RWTH Aachen University (Author)
  • Amelie Echle - , RWTH Aachen University (Author)
  • Hannah Sophie Muti - , RWTH Aachen University (Author)
  • Jeremias Krause - , RWTH Aachen University (Author)
  • Jan M. Niehues - , RWTH Aachen University (Author)
  • Kai A.J. Sommer - , RWTH Aachen University (Author)
  • Peter Bankhead - , University of Edinburgh (Author)
  • Loes F.S. Kooreman - , Maastricht University (Author)
  • Jefree J. Schulte - , The University of Chicago (Author)
  • Nicole A. Cipriani - , The University of Chicago (Author)
  • Roman D. Buelow - , RWTH Aachen University (Author)
  • Peter Boor - , RWTH Aachen University (Author)
  • Nadina Ortiz-Brüchle - , RWTH Aachen University (Author)
  • Andrew M. Hanby - , University of Leeds (Author)
  • Valerie Speirs - , University of Aberdeen (Author)
  • Sara Kochanny - , The University of Chicago (Author)
  • Akash Patnaik - , The University of Chicago (Author)
  • Andrew Srisuwananukorn - , University of Illinois at Chicago (Author)
  • Hermann Brenner - , German Cancer Research Center (DKFZ) (Author)
  • Michael Hoffmeister - , German Cancer Research Center (DKFZ) (Author)
  • Piet A. van den Brandt - , Maastricht University (Author)
  • Dirk Jäger - , German Cancer Research Center (DKFZ), Heidelberg University  (Author)
  • Christian Trautwein - , RWTH Aachen University (Author)
  • Alexander T. Pearson - , The University of Chicago (Author)
  • Tom Luedde - , RWTH Aachen University, University Hospital Duesseldorf (Author)

Abstract

Molecular alterations in cancer can cause phenotypic changes in tumor cells and their microenvironment. 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 5,000 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.

Details

Original languageEnglish
Pages (from-to)789-799
Number of pages11
JournalNature cancer
Volume1
Issue number8
Publication statusPublished - 1 Aug 2020
Peer-reviewedYes
Externally publishedYes

External IDs

PubMed 33763651

Keywords

Sustainable Development Goals

ASJC Scopus subject areas