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

Pan-cancer image-based detection of clinically actionable genetic alterations
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DOI:
10.1038/s43018-020-0087-6
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发表时间:
2020-07-27
期刊:
影响因子:
22.7
通讯作者:
Luedde T
Luedde T
中科院分区:
医学1区
文献类型:
--
作者:
Kather JN;Heij LR;Grabsch HI;Loeffler C;Echle A;Muti HS;Krause J;Niehues JM;Sommer KA;Bankhead P;Kooreman LF;Schulte JJ;Cipriani NA;Buelow RD;Boor P;Ortiz-Brüchle NN;Hanby AM;Speirs V;Kochanny S;Patnaik A;Srisuwananukorn A;Brenner H;Hoffmeister M;van den Brandt PA;Jäger D;Trautwein C;Pearson AT;Luedde T

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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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