Australasian Gastrointestinal Pathology Society (AGPS) consensus guidelines for universal defective mismatch repair testing in colorectal carcinoma

被引：9

作者：

Yozu, Masato ^{[1
]}

Kumarasinghe, M. Priyanthi ^{[2
,3
]}

Brown, Ian S. ^{[4
,5
]}

Gill, Anthony J. ^{[6
,7
,8
]}

Rosty, Christophe ^{[4
,9
,10
]}

机构：

[1] Middlemore Hosp, Dept Histopathol, Auckland, New Zealand

[2] QEII Med Ctr, PathWest, Perth, WA, Australia

[3] Univ Western Australia, Sch Pathol & Lab Med, Perth, WA, Australia

[4] Envoi Specialist Pathologists, Brisbane, Qld, Australia

[5] Pathol Queensland, Dept Anat Pathol, Brisbane, Qld, Australia

[6] Royal North Shore Hosp, Kolling Inst Med Res, Canc Diag & Pathol Grp, St Leonards, NSW, Australia

[7] Royal North Shore Hosp, Dept Anat Pathol, NSW Hlth Pathol, St Leonards, NSW, Australia

[8] Univ Sydney, Sydney, NSW, Australia

[9] Univ Queensland, Fac Med, Brisbane, Qld, Australia

[10] Univ Melbourne, Dept Pathol, Melbourne, Vic, Australia

来源：

PATHOLOGY | 2019年 / 51卷 / 03期

关键词：

Lynch syndrome; colorectal cancer; mismatch repair protein; immunohistochemistry; microsatellite instability; BRAF V600E MUTATION; LYNCH SYNDROME; COST-EFFECTIVENESS; ENDOMETRIAL CANCER; BRAFV600E IMMUNOHISTOCHEMISTRY; MICROSATELLITE INSTABILITY; GERMLINE MUTATIONS; MLH1; METHYLATION; MANAGEMENT; COLON;

D O I：

10.1016/j.pathol.2018.11.014

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

Lynch syndrome is the most common hereditary form of colorectal carcinoma caused by a constitutional pathogenic mutation in a DNA mismatch repair gene. Identifying Lynch syndrome is essential to initiate intensive surveillance program for the patient and affected relatives. On behalf of the Australasian Gastrointestinal Pathology Society (AGPS), we present in this manuscript consensus guidelines for Lynch syndrome screening in patients with colorectal carcinoma. The goal of this consensus document is to provide recommendations to pathologists for diagnosis of Lynch syndrome with discussion of the benefits and limitations of each test. Universal screening for defective mismatch repair is recommended, in agreement with the recent endorsement of universal testing by the National Health and Medical Research Council in Australia and the New Zealand Ministry of Health. The value of evaluating defective mismatch repair is acknowledged not only for Lynch syndrome screening but also for therapeutic decision information in patient management. AGPS advocates appropriate government funding for the molecular tests necessary for Lynch syndrome screening (BRAF mutation, MLH1 methylation testing).

引用

页码：233 / 239

页数：7

共 64 条

[31] Mismatch repair deficiency predicts response of solid tumors to PD-1 blockade [J].

Le, Dung T. ;

Durham, Jennifer N. ;

Smith, Kellie N. ;

Wang, Hao ;

Bartlett, Bjarne R. ;

Aulakh, Laveet K. ;

Lu, Steve ;

Kemberling, Holly ;

Wilt, Cara ;

Luber, Brandon S. ;

Wong, Fay ;

Azad, Nilofer S. ;

Rucki, Agnieszka A. ;

Laheru, Dan ;

Donehower, Ross ;

Zaheer, Atif ;

Fisher, George A. ;

Crocenzi, Todd S. ;

Lee, James J. ;

Greten, Tim F. ;

Duffy, Austin G. ;

Ciombor, Kristen K. ;

Eyring, Aleksandra D. ;

Lam, Bao H. ;

Joe, Andrew ;

Kang, S. Peter ;

Holdhoff, Matthias ;

Danilova, Ludmila ;

Cope, Leslie ;

Meyer, Christian ;

Zhou, Shibin ;

Goldberg, Richard M. ;

Armstrong, Deborah K. ;

Bever, Katherine M. ;

Fader, Amanda N. ;

Taube, Janis ;

Housseau, Franck ;

Spetzler, David ;

Xiao, Nianqing ;

Pardoll, Drew M. ;

Papadopoulos, Nickolas ;

Kinzler, Kenneth W. ;

Eshleman, James R. ;

Vogelstein, Bert ;

Anders, Robert A. ;

Diaz, Luis A., Jr. .

SCIENCE, 2017, 357 (6349) :409-413

[32] Cost-effectiveness of routine screening for Lynch syndrome in colorectal cancer patients up to 70 years of age [J].

Leenen, Celine H. M. ;

Goverde, Anne ;

de Bekker-Grob, Esther W. ;

Wagner, Anja ;

van Lier, Margot G. F. ;

Spaander, Manon C. W. ;

Bruno, Marco J. ;

Tops, Carli M. ;

van den Ouweland, Ans M. W. ;

Dubbink, Hendrikus J. ;

Kuipers, Ernst J. ;

Dinjens, Winand N. M. ;

van Leerdam, Monique E. ;

Steyerberg, Ewout W. .

GENETICS IN MEDICINE, 2016, 18 (10) :966-973

[33]

Leggett B, 2017, LYNCH SYNDROME CLIN

[34] Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3′ exons of TACSTD1 [J].

Ligtenberg, Marjolijn J. L. ;

Kuiper, Roland P. ;

Chan, Tsun Leung ;

Goossens, Monique ;

Hebeda, Konnie M. ;

Voorendt, Marsha ;

Lee, Tracy Y. H. ;

Bodmer, Danielle ;

Hoenselaar, Eveline ;

Hendriks-Cornelissen, Sandra J. B. ;

Tsui, Wai Yin ;

Kong, Chi Kwan ;

Brunner, Han G. ;

van Kessel, Ad Geurts ;

Yuen, Siu Tsan ;

van Krieken, J. Han J. M. ;

Leung, Suet Yi ;

Hoogerbrugge, Nicoline .

NATURE GENETICS, 2009, 41 (01) :112-117

[35]

Loughrey MB, 2018, HISTOPATHOLOGY

[36]

Miller GC, 2018, BIORXIV

[37] Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database [J].

Moller, Pal ;

Seppala, Toni T. ;

Bernstein, Inge ;

Holinski-Feder, Elke ;

Sala, Paulo ;

Evans, D. Gareth ;

Lindblom, Annika ;

Macrae, Finlay ;

Blanco, Ignacio ;

Sijmons, Rolf H. ;

Jeffries, Jacqueline ;

Vasen, Hans F. A. ;

Burn, John ;

Nakken, Sigve ;

Hovig, Eivind ;

Rodland, Einar Andreas ;

Tharmaratnam, Kukatharmini ;

Cappel, Wouter H. de Vos Tot Nederveen ;

Hill, James ;

Wijnen, Juul T. ;

Jenkins, Mark A. ;

Green, Kate ;

Lalloo, Fiona ;

Sunde, Lone ;

Mints, Miriam ;

Bertario, Lucio ;

Pineda, Marta ;

Navarro, Matilde ;

Morak, Monika ;

Renkonen-Sinisalo, Laura ;

Valentin, Mev Dominguez ;

Frayling, Ian M. ;

Plazzer, John-Paul ;

Pylvanainen, Kirsi ;

Genuardi, Maurizio ;

Mecklin, Jukka-Pekka ;

Moeslein, Gabriela ;

Sampson, Julian R. ;

Capella, Gabriel .

GUT, 2018, 67 (07) :1306-1316

[38] Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database [J].

Moller, Pal ;

Seppala, Toni ;

Bernstein, Inge ;

Holinski-Feder, Elke ;

Sala, Paola ;

Evans, D. Gareth ;

Lindblom, Annika ;

Macrae, Finlay ;

Blanco, Ignacio ;

Sijmons, Rolf ;

Jeffries, Jacqueline ;

Vasen, Hans ;

Burn, John ;

Nakken, Sigve ;

Hovig, Eivind ;

Rodland, Einar Andreas ;

Tharmaratnam, Kukatharmini ;

Cappel, Wouter H. de Vos Tot Nederveen ;

Hill, James ;

Wijnen, Juul ;

Green, Kate ;

Lalloo, Fiona ;

Sunde, Lone ;

Mints, Miriam ;

Bertario, Lucio ;

Pineda, Marta ;

Navarro, Matilde ;

Morak, Monika ;

Renkonen-Sinisalo, Laura ;

Frayling, Ian M. ;

Plazzer, John-Paul ;

Pylvanainen, Kirsi ;

Sampson, Julian R. ;

Capella, Gabriel ;

Mecklin, Jukka-Pekka ;

Moslein, Gabriela .

GUT, 2017, 66 (03) :464-472

[39] Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome [J].

Morak, Monika ;

Koehler, Udo ;

Schackert, Hans Konrad ;

Steinke, Verena ;

Royer-Pokora, Brigitte ;

Schulmann, Karsten ;

Kloor, Matthias ;

Hoechter, Wilhelm ;

Weingart, Josef ;

Keiling, Cortina ;

Massdorf, Trisari ;

Holinski-Feder, Elke .

JOURNAL OF MEDICAL GENETICS, 2011, 48 (08) :513-519

[40] Identification of Lynch Syndrome Among Patients With Colorectal Cancer [J].

Moreira, Leticia ;

Balaguer, Francesc ;

Lindor, Noralane ;

de la Chapelle, Albert ;

Hampel, Heather ;

Aaltonen, Lauri A. ;

Hopper, John L. ;

Le Marchand, Loic ;

Gallinger, Steven ;

Newcomb, Polly A. ;

Haile, Robert ;

Thibodeau, Stephen N. ;

Gunawardena, Shanaka ;

Jenkins, Mark A. ;

Buchanan, Daniel D. ;

Potter, John D. ;

Baron, John A. ;

Ahnen, Dennis J. ;

Moreno, Victor ;

Andreu, Montserrat ;

de Leon, Maurizio Ponz ;

Rustgi, Anil K. ;

Castells, Antoni .

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2012, 308 (15) :1555-1565

← 1 2 3 4 5 6 7 →