Artificial intelligence for detection of microsatellite instability in colorectal cancer - a multicentric analysis of a pre-screening tool for clinical application
Background - Microsatellite instability (MSI)/mismatch repair deficiency (dMMR) is a key genetic feature which should be tested in every patient with colorectal cancer (CRC) according to medical guidelines. Artificial intelligence (AI) methods can detect MSI/dMMR directly in routine pathology slides...
Gespeichert in:
| Hauptverfasser: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
2 March 2022
|
| In: |
ESMO open
Year: 2022, Jahrgang: 7, Heft: 2, Pages: 1-16 |
| ISSN: | 2059-7029 |
| DOI: | 10.1016/j.esmoop.2022.100400 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1016/j.esmoop.2022.100400 Verlag, lizenzpflichtig, Volltext: https://www.sciencedirect.com/science/article/pii/S2059702922000217 
|
| Verfasserangaben: | A. Echle, N. Ghaffari Laleh, P. Quirke, H.I. Grabsch, H.S. Muti, O.L. Saldanha, S.F. Brockmoeller, P.A. van den Brandt, G.G.A. Hutchins, S.D. Richman, K. Horisberger, C. Galata, M.P. Ebert, M. Eckardt, M. Boutros, D. Horst, C. Reissfelder, E. Alwers, T.J. Brinker, R. Langer, J.C.A. Jenniskens, K. Offermans, W. Mueller, R. Gray, S.B. Gruber, J.K. Greenson, G. Rennert, J.D. Bonner, D. Schmolze, J. Chang-Claude, H. Brenner, C. Trautwein, P. Boor, D. Jaeger, N.T. Gaisa, M. Hoffmeister, N.P. West & J.N. Kather |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1813777039 | ||
| 003 | DE-627 | ||
| 005 | 20240416194046.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 220809s2022 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1016/j.esmoop.2022.100400 |2 doi | |
| 035 | |a (DE-627)1813777039 | ||
| 035 | |a (DE-599)KXP1813777039 | ||
| 035 | |a (OCoLC)1361713430 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Echle, Amelie |d 1996- |e VerfasserIn |0 (DE-588)1224421035 |0 (DE-627)174377656X |4 aut | |
| 245 | 1 | 0 | |a Artificial intelligence for detection of microsatellite instability in colorectal cancer - a multicentric analysis of a pre-screening tool for clinical application |c A. Echle, N. Ghaffari Laleh, P. Quirke, H.I. Grabsch, H.S. Muti, O.L. Saldanha, S.F. Brockmoeller, P.A. van den Brandt, G.G.A. Hutchins, S.D. Richman, K. Horisberger, C. Galata, M.P. Ebert, M. Eckardt, M. Boutros, D. Horst, C. Reissfelder, E. Alwers, T.J. Brinker, R. Langer, J.C.A. Jenniskens, K. Offermans, W. Mueller, R. Gray, S.B. Gruber, J.K. Greenson, G. Rennert, J.D. Bonner, D. Schmolze, J. Chang-Claude, H. Brenner, C. Trautwein, P. Boor, D. Jaeger, N.T. Gaisa, M. Hoffmeister, N.P. West & J.N. Kather |
| 264 | 1 | |c 2 March 2022 | |
| 300 | |a 16 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Gesehen am 09.08.2022 | ||
| 520 | |a Background - Microsatellite instability (MSI)/mismatch repair deficiency (dMMR) is a key genetic feature which should be tested in every patient with colorectal cancer (CRC) according to medical guidelines. Artificial intelligence (AI) methods can detect MSI/dMMR directly in routine pathology slides, but the test performance has not been systematically investigated with predefined test thresholds. - Method - We trained and validated AI-based MSI/dMMR detectors and evaluated predefined performance metrics using nine patient cohorts of 8343 patients across different countries and ethnicities. - Results - Classifiers achieved clinical-grade performance, yielding an area under the receiver operating curve (AUROC) of up to 0.96 without using any manual annotations. Subsequently, we show that the AI system can be applied as a rule-out test: by using cohort-specific thresholds, on average 52.73% of tumors in each surgical cohort [total number of MSI/dMMR = 1020, microsatellite stable (MSS)/ proficient mismatch repair (pMMR) = 7323 patients] could be identified as MSS/pMMR with a fixed sensitivity at 95%. In an additional cohort of N = 1530 (MSI/dMMR = 211, MSS/pMMR = 1319) endoscopy biopsy samples, the system achieved an AUROC of 0.89, and the cohort-specific threshold ruled out 44.12% of tumors with a fixed sensitivity at 95%. As a more robust alternative to cohort-specific thresholds, we showed that with a fixed threshold of 0.25 for all the cohorts, we can rule-out 25.51% in surgical specimens and 6.10% in biopsies. - Interpretation - When applied in a clinical setting, this means that the AI system can rule out MSI/dMMR in a quarter (with global thresholds) or half of all CRC patients (with local fine-tuning), thereby reducing cost and turnaround time for molecular profiling. | ||
| 650 | 4 | |a artificial intelligence | |
| 650 | 4 | |a biomarker | |
| 650 | 4 | |a colorectal cancer | |
| 650 | 4 | |a deep learning | |
| 650 | 4 | |a Lynch syndrome | |
| 650 | 4 | |a microsatellite instability | |
| 700 | 1 | |a Ghaffari Laleh, N. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Quirke, P. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Grabsch, H. I. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Muti, H. S. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Saldanha, O. L. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Brockmoeller, S. F. |e VerfasserIn |4 aut | |
| 700 | 1 | |a van den Brandt, P. A. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Hutchins, G. G. A. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Richman, S. D. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Horisberger, K. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Galata, Christian |d 1985- |e VerfasserIn |0 (DE-588)1151607282 |0 (DE-627)1012015734 |0 (DE-576)497942143 |4 aut | |
| 700 | 1 | |a Ebert, Matthias |d 1968- |e VerfasserIn |0 (DE-588)1030133522 |0 (DE-627)734827083 |0 (DE-576)377938432 |4 aut | |
| 700 | 1 | |a Eckardt, Maximilian |d 1988- |e VerfasserIn |0 (DE-588)1201204658 |0 (DE-627)1684659663 |4 aut | |
| 700 | 1 | |a Boutros, Michael |e VerfasserIn |0 (DE-588)1023031132 |0 (DE-627)717350045 |0 (DE-576)366291831 |4 aut | |
| 700 | 1 | |a Horst, D. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Reißfelder, Christoph |d 1975- |e VerfasserIn |0 (DE-588)1025566211 |0 (DE-627)722940297 |0 (DE-576)370516044 |4 aut | |
| 700 | 1 | |a Alwers, E. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Brinker, T. J. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Langer, R. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Jenniskens, J. C. A. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Offermans, K. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Mueller, W. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Gray, R. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Gruber, S. B. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Greenson, J. K. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Rennert, G. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Bonner, J. D. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Schmolze, D. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Chang-Claude, Jenny |e VerfasserIn |0 (DE-588)1049304993 |0 (DE-627)781626188 |0 (DE-576)168344475 |4 aut | |
| 700 | 1 | |a Brenner, Hermann |e VerfasserIn |0 (DE-588)1020516445 |0 (DE-627)691247005 |0 (DE-576)360642136 |4 aut | |
| 700 | 1 | |a Trautwein, C. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Boor, P. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Jaeger, D. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Gaisa, Nadine |d 1978- |e VerfasserIn |0 (DE-588)130814229 |0 (DE-627)506011534 |0 (DE-576)298354942 |4 aut | |
| 700 | 1 | |a Hoffmeister, Michael |d 1973- |e VerfasserIn |0 (DE-588)134103726 |0 (DE-627)560880820 |0 (DE-576)277089565 |4 aut | |
| 700 | 1 | |a West, N. P. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Kather, Jakob Nikolas |d 1989- |e VerfasserIn |0 (DE-588)1064064914 |0 (DE-627)812897587 |0 (DE-576)423589091 |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t ESMO open |d [London] : Elsevier, 2016 |g 7(2022), 2, Artikel-ID 100400, Seite 1-16 |h Online-Ressource |w (DE-627)84705344X |w (DE-600)2844985-X |w (DE-576)454658516 |x 2059-7029 |7 nnas |a Artificial intelligence for detection of microsatellite instability in colorectal cancer - a multicentric analysis of a pre-screening tool for clinical application |
| 773 | 1 | 8 | |g volume:7 |g year:2022 |g number:2 |g elocationid:100400 |g pages:1-16 |g extent:16 |a Artificial intelligence for detection of microsatellite instability in colorectal cancer - a multicentric analysis of a pre-screening tool for clinical application |
| 856 | 4 | 0 | |u https://doi.org/10.1016/j.esmoop.2022.100400 |x Verlag |x Resolving-System |z lizenzpflichtig |3 Volltext |
| 856 | 4 | 0 | |u https://www.sciencedirect.com/science/article/pii/S2059702922000217 |x Verlag |z lizenzpflichtig |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20220809 | ||
| 993 | |a Article | ||
| 994 | |a 2022 | ||
| 998 | |g 1023031132 |a Boutros, Michael |m 1023031132:Boutros, Michael |d 60000 |e 60000PB1023031132 |k 0/60000/ |p 15 | ||
| 998 | |g 1201204658 |a Eckardt, Maximilian |m 1201204658:Eckardt, Maximilian |d 60000 |d 61100 |e 60000PE1201204658 |e 61100PE1201204658 |k 0/60000/ |k 1/60000/61100/ |p 14 | ||
| 998 | |g 1030133522 |a Ebert, Matthias |m 1030133522:Ebert, Matthias |d 60000 |d 61100 |e 60000PE1030133522 |e 61100PE1030133522 |k 0/60000/ |k 1/60000/61100/ |p 13 | ||
| 998 | |g 1025566211 |a Reißfelder, Christoph |m 1025566211:Reißfelder, Christoph |d 50000 |d 60000 |d 61800 |e 50000PR1025566211 |e 60000PR1025566211 |e 61800PR1025566211 |k 0/50000/ |k 0/60000/ |k 1/60000/61800/ |p 17 | ||
| 998 | |g 1151607282 |a Galata, Christian |m 1151607282:Galata, Christian |d 60000 |d 61800 |e 60000PG1151607282 |e 61800PG1151607282 |k 0/60000/ |k 1/60000/61800/ |p 12 | ||
| 998 | |g 1064064914 |a Kather, Jakob Nikolas |m 1064064914:Kather, Jakob Nikolas |d 910000 |d 910100 |e 910000PK1064064914 |e 910100PK1064064914 |k 0/910000/ |k 1/910000/910100/ |p 38 |y j | ||
| 998 | |g 134103726 |a Hoffmeister, Michael |m 134103726:Hoffmeister, Michael |d 50000 |e 50000PH134103726 |k 0/50000/ |p 36 | ||
| 998 | |g 1020516445 |a Brenner, Hermann |m 1020516445:Brenner, Hermann |d 850000 |d 851600 |d 50000 |e 850000PB1020516445 |e 851600PB1020516445 |e 50000PB1020516445 |k 0/850000/ |k 1/850000/851600/ |k 0/50000/ |p 31 | ||
| 998 | |g 1049304993 |a Chang-Claude, Jenny |m 1049304993:Chang-Claude, Jenny |d 50000 |e 50000PC1049304993 |k 0/50000/ |p 30 | ||
| 999 | |a KXP-PPN1813777039 |e 4177054402 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"person":[{"role":"aut","given":"Amelie","family":"Echle","display":"Echle, Amelie"},{"family":"Ghaffari Laleh","display":"Ghaffari Laleh, N.","role":"aut","given":"N."},{"display":"Quirke, P.","family":"Quirke","given":"P.","role":"aut"},{"family":"Grabsch","display":"Grabsch, H. I.","role":"aut","given":"H. I."},{"family":"Muti","display":"Muti, H. S.","role":"aut","given":"H. S."},{"family":"Saldanha","display":"Saldanha, O. L.","role":"aut","given":"O. L."},{"given":"S. F.","role":"aut","display":"Brockmoeller, S. F.","family":"Brockmoeller"},{"family":"van den Brandt","display":"van den Brandt, P. A.","role":"aut","given":"P. A."},{"display":"Hutchins, G. G. A.","family":"Hutchins","given":"G. G. A.","role":"aut"},{"given":"S. D.","role":"aut","display":"Richman, S. D.","family":"Richman"},{"given":"K.","role":"aut","display":"Horisberger, K.","family":"Horisberger"},{"role":"aut","given":"Christian","family":"Galata","display":"Galata, Christian"},{"display":"Ebert, Matthias","family":"Ebert","given":"Matthias","role":"aut"},{"display":"Eckardt, Maximilian","family":"Eckardt","given":"Maximilian","role":"aut"},{"role":"aut","given":"Michael","family":"Boutros","display":"Boutros, Michael"},{"family":"Horst","display":"Horst, D.","role":"aut","given":"D."},{"given":"Christoph","role":"aut","display":"Reißfelder, Christoph","family":"Reißfelder"},{"role":"aut","given":"E.","family":"Alwers","display":"Alwers, E."},{"role":"aut","given":"T. J.","family":"Brinker","display":"Brinker, T. J."},{"given":"R.","role":"aut","display":"Langer, R.","family":"Langer"},{"family":"Jenniskens","display":"Jenniskens, J. C. A.","role":"aut","given":"J. C. A."},{"role":"aut","given":"K.","family":"Offermans","display":"Offermans, K."},{"family":"Mueller","display":"Mueller, W.","role":"aut","given":"W."},{"role":"aut","given":"R.","family":"Gray","display":"Gray, R."},{"given":"S. B.","role":"aut","display":"Gruber, S. B.","family":"Gruber"},{"given":"J. K.","role":"aut","display":"Greenson, J. K.","family":"Greenson"},{"display":"Rennert, G.","family":"Rennert","given":"G.","role":"aut"},{"display":"Bonner, J. D.","family":"Bonner","given":"J. D.","role":"aut"},{"given":"D.","role":"aut","display":"Schmolze, D.","family":"Schmolze"},{"display":"Chang-Claude, Jenny","family":"Chang-Claude","given":"Jenny","role":"aut"},{"display":"Brenner, Hermann","family":"Brenner","given":"Hermann","role":"aut"},{"given":"C.","role":"aut","display":"Trautwein, C.","family":"Trautwein"},{"role":"aut","given":"P.","family":"Boor","display":"Boor, P."},{"given":"D.","role":"aut","display":"Jaeger, D.","family":"Jaeger"},{"given":"Nadine","role":"aut","display":"Gaisa, Nadine","family":"Gaisa"},{"display":"Hoffmeister, Michael","family":"Hoffmeister","given":"Michael","role":"aut"},{"display":"West, N. P.","family":"West","given":"N. P.","role":"aut"},{"family":"Kather","display":"Kather, Jakob Nikolas","role":"aut","given":"Jakob Nikolas"}],"id":{"eki":["1813777039"],"doi":["10.1016/j.esmoop.2022.100400"]},"physDesc":[{"extent":"16 S."}],"relHost":[{"pubHistory":["1.2016 -"],"name":{"displayForm":["European Society for Medical Oncology"]},"note":["Gesehen am 13.06.24"],"language":["eng"],"recId":"84705344X","origin":[{"dateIssuedKey":"2016","dateIssuedDisp":"2016-","publisher":"Elsevier ; BMJ","publisherPlace":"[London] ; London"}],"corporate":[{"role":"isb","display":"European Society for Medical Oncology"}],"id":{"zdb":["2844985-X"],"issn":["2059-7029"],"eki":["84705344X"]},"type":{"bibl":"periodical","media":"Online-Ressource"},"title":[{"subtitle":"cancer horizons","title_sort":"ESMO open","title":"ESMO open"}],"physDesc":[{"extent":"Online-Ressource"}],"part":{"pages":"1-16","issue":"2","extent":"16","year":"2022","volume":"7","text":"7(2022), 2, Artikel-ID 100400, Seite 1-16"},"disp":"Artificial intelligence for detection of microsatellite instability in colorectal cancer - a multicentric analysis of a pre-screening tool for clinical applicationESMO open"}],"title":[{"title_sort":"Artificial intelligence for detection of microsatellite instability in colorectal cancer - a multicentric analysis of a pre-screening tool for clinical application","title":"Artificial intelligence for detection of microsatellite instability in colorectal cancer - a multicentric analysis of a pre-screening tool for clinical application"}],"type":{"bibl":"article-journal","media":"Online-Ressource"},"recId":"1813777039","note":["Gesehen am 09.08.2022"],"language":["eng"],"origin":[{"dateIssuedDisp":"2 March 2022","dateIssuedKey":"2022"}],"name":{"displayForm":["A. Echle, N. Ghaffari Laleh, P. Quirke, H.I. Grabsch, H.S. Muti, O.L. Saldanha, S.F. Brockmoeller, P.A. van den Brandt, G.G.A. Hutchins, S.D. Richman, K. Horisberger, C. Galata, M.P. Ebert, M. Eckardt, M. Boutros, D. Horst, C. Reissfelder, E. Alwers, T.J. Brinker, R. Langer, J.C.A. Jenniskens, K. Offermans, W. Mueller, R. Gray, S.B. Gruber, J.K. Greenson, G. Rennert, J.D. Bonner, D. Schmolze, J. Chang-Claude, H. Brenner, C. Trautwein, P. Boor, D. Jaeger, N.T. Gaisa, M. Hoffmeister, N.P. West & J.N. Kather"]}} | ||
| SRT | |a ECHLEAMELIARTIFICIAL2202 | ||