Polymerase proofreading domain mutations: New opportunities for immunotherapy in hypermutated colorectal cancer beyond MMR deficiency

被引：62

作者：

Bourdais, Remi ^{[1
]}

Rousseau, Benoit ^{[1
,2
,3
]}

Pujals, Anais ^{[2
,4
,5
]}

Boussion, Helene ^{[1
,2
]}

Joly, Charlotte ^{[1
]}

Guillemin, Aude ^{[1
]}

Baumgaertner, Isabelle ^{[1
,6
]}

Neuzillet, Cindy ^{[1
]}

Tournigand, Christophe ^{[1
,2
,6
]}

机构：

[1] Hop Henri Mondor, AP HP, Serv Oncol Med, Creteil, France

[2] Univ Paris Est, Fac Med, Creteil, France

[3] INSERM, Equipe U955 18, Creteil, France

[4] Hop Henri Mondor, AP HP, Dept Pathol, Creteil, France

[5] INSERM, U955, Equipe 9, Creteil, France

[6] Univ Paris Est, Fac Med, Canc Res Lab EA7375 EC2M3, Creteil, France

来源：

CRITICAL REVIEWS IN ONCOLOGY HEMATOLOGY | 2017年 / 113卷

关键词：

Cancer; Colorectal; Immunotherapy; MSI; Polymerase E; MOLECULAR SUBTYPES; OPEN-LABEL; GERMLINE; BEVACIZUMAB; INSTABILITY; IPILIMUMAB; BLOCKADE; THERAPY; TUMORS; COLON;

D O I：

10.1016/j.critrevonc.2017.03.027

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Immune checkpoint inhibition is a new therapeutic strategy that has shown promising efficacy in many cancer types. Significant activity associated with mismatch repair (MMR) deficiency has been observed in hypermutated, microsatellite unstable (MSI) metastatic colorectal cancer (CRC). Beyond deficient-MMR tumors, somatic or germline DNA polymerase D1 (POLD1) or DNA polymerase E (POLE) alterations cause a hypermutated phenotype in CRC. This recently identified and rare subgroup of proficient-MMR tumors may also benefit from immunotherapy. In this review, we provide a comprehensive overview of recent data on CRC tumors harboring POLD1 or POLE mutations, with a focus on their molecular, histological, and clinical features. We also examine the evidence supporting the development of immune checkpoint inhibitors in this specific subgroup of CRC patients. (C) 2017 Elsevier B.V. All rights reserved.

引用

页码：242 / 248

页数：7

共 40 条

[1]

[Anonymous], J CLIN ONCOL

[2] POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance [J].

Bellido, Fernando ;

Pineda, Marta ;

Aiza, Gemma ;

Valdes-Mas, Rafael ;

Navarro, Matilde ;

Puente, Diana A. ;

Pons, Tirso ;

Gonzalez, Sara ;

Iglesias, Silvia ;

Darder, Esther ;

Pinol, Virginia ;

Luis Soto, Jose ;

Valencia, Alfonso ;

Blanco, Ignacio ;

Urioste, Miguel ;

Brunet, Joan ;

Lazaro, Conxi ;

Capella, Gabriel ;

Puente, Xose S. ;

Valle, Laura .

GENETICS IN MEDICINE, 2016, 18 (04) :325-332

[3] Germline and somatic polymerase ε and δ mutations define a new class of hypermutated colorectal and endometrial cancers [J].

Briggs, Sarah ;

Tomlinson, Ian .

JOURNAL OF PATHOLOGY, 2013, 230 (02) :148-153

[4] The cBio Cancer Genomics Portal: An Open Platform for Exploring Multidimensional Cancer Genomics Data [J].

Cerami, Ethan ;

Gao, Jianjiong ;

Dogrusoz, Ugur ;

Gross, Benjamin E. ;

Sumer, Selcuk Onur ;

Aksoy, Buelent Arman ;

Jacobsen, Anders ;

Byrne, Caitlin J. ;

Heuer, Michael L. ;

Larsson, Erik ;

Antipin, Yevgeniy ;

Reva, Boris ;

Goldberg, Arthur P. ;

Sander, Chris ;

Schultz, Nikolaus .

CANCER DISCOVERY, 2012, 2 (05) :401-404

[5] Efficacy and safety of cobimetinib (cobi) and atezolizumab (atezo) in an expanded phase 1b study of microsatellite-stable (MSS) metastatic colorectal cancer (mCRC) [J].

Desai, J. ;

Hong, Y. S. ;

Kim, J. E. ;

Kim, T. W. ;

Han, S. W. ;

Bang, Y-J. ;

Chee, C. E. ;

Heong, V. Y. M. ;

Mcree, A. ;

Chow, L. Q. ;

Kwak, E. L. ;

Infante, J. R. ;

Wallin, J. ;

Das Thakur, M. ;

Mwawasi, G. ;

Foster, P. ;

Cha, E. ;

Bendell, J. C. .

ANNALS OF ONCOLOGY, 2016, 27

[6] Somatic POLE proofreading domain mutation, immune response, and prognosis in colorectal cancer: a retrospective, pooled biomarker study [J].

Domingo, Enric ;

Freeman-Mills, Luke ;

Rayner, Emily ;

Glaire, Mark ;

Briggs, Sarah ;

Vermeulen, Louis ;

Fessler, Evelyn ;

Medema, Jan Paul ;

Boot, Arnoud ;

Morreau, Hans ;

van Wezel, Tom ;

Liefers, Gerrit-Jan ;

Lothe, Ragnhild A. ;

Danielsen, Stine A. ;

Sveen, Anita ;

Nesbakken, Arild ;

Zlobec, Inti ;

Lugli, Alessandro ;

Koelzer, Viktor H. ;

Berger, Martin D. ;

Casteilvi-Bel, Sergi ;

Munoz, Jenifer ;

de Bruyn, Marco ;

Nijman, Hans W. ;

Novelli, Marco ;

Lawson, Kay ;

Oukrif, Dahtnane ;

Frangou, Eleni ;

Dutton, Peter ;

Tejpar, Sabine ;

Delorenzi, Mauro ;

Kerr, Rachel ;

Kerr, David ;

Tomlinson, Ian ;

Church, David N. .

LANCET GASTROENTEROLOGY & HEPATOLOGY, 2016, 1 (03) :207-216

[7] Metastatic Colorectal Cancer: Current State and Future Directions [J].

Fakih, Marwan G. .

JOURNAL OF CLINICAL ONCOLOGY, 2015, 33 (16) :1809-+

[8] Cancer incidence and mortality worldwide: Sources, methods and major patterns in GLOBOCAN 2012 [J].

Ferlay, Jacques ;

Soerjomataram, Isabelle ;

Dikshit, Rajesh ;

Eser, Sultan ;

Mathers, Colin ;

Rebelo, Marise ;

Parkin, Donald Maxwell ;

Forman, David ;

Bray, Freddie .

INTERNATIONAL JOURNAL OF CANCER, 2015, 136 (05) :E359-E386

[9] Integrative Analysis of Complex Cancer Genomics and Clinical Profiles Using the cBioPortal [J].

Gao, Jianjiong ;

Aksoy, Buelent Arman ;

Dogrusoz, Ugur ;

Dresdner, Gideon ;

Gross, Benjamin ;

Sumer, S. Onur ;

Sun, Yichao ;

Jacobsen, Anders ;

Sinha, Rileen ;

Larsson, Erik ;

Cerami, Ethan ;

Sander, Chris ;

Schultz, Nikolaus .

SCIENCE SIGNALING, 2013, 6 (269) :pl1

[10]

George TJ, 2016, J CLIN ONCOL S, V34

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