Recommendations on Surveillance and Management of Biallelic Mismatch Repair Deficiency (BMMRD) Syndrome: A Consensus Statement by the US Multi-society Task Force on Colorectal Cancer

被引：6

作者：

Durno, Carol ^{[1
]}

Boland, C. Richard ^{[2
]}

Cohen, Shlomi ^{[3
]}

Dominitz, Jason A. ^{[4
,5
]}

Giardiello, Frank M. ^{[6
]}

Johnson, David A. ^{[7
]}

Kaltenbach, Tonya ^{[8
]}

Levin, T. R. ^{[9
]}

Lieberman, David ^{[10
]}

Robertson, Douglas J. ^{[11
,12
]}

Rex, Douglas K. ^{[13
]}

机构：

[1] Univ Toronto, Hosp Sick Children, Zane Cohen Ctr, Mt Sinai Hosp,Div Gastroenterol Hepatol & Nutr,De, Toronto, ON, Canada

[2] Univ Calif San Diego, Dept Med Gastroenterol, San Diego, CA 92103 USA

[3] Tel Aviv Univ, Tel Aviv Sourasky Med Ctr, Sackler Fac Med, Pediat Gastroenterol Unit,Dana Dwek Childrens Hos, Tel Aviv, Israel

[4] VA Puget Sound Hlth Care Syst, Seattle, WA USA

[5] Univ Washington, Sch Med, Seattle, WA USA

[6] Johns Hopkins Univ, Sch Med, Baltimore, MD USA

[7] Eastern Virginia Med Sch, Norfolk, VA 23501 USA

[8] Stanford Univ, Sch Med, Vet Affairs Palo Alto, Palo Alto, CA 94304 USA

[9] Kaiser Permanente Med Ctr, Walnut Creek, CA USA

[10] Oregon Hlth & Sci Univ, Portland, OR 97201 USA

[11] VA Med Ctr, White River Jct, VT USA

[12] Geisel Sch Med Dartmouth, Hanover, NH USA

[13] Indiana Univ Sch Med, Indianapolis, IN 46202 USA

来源：

JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION | 2017年 / 64卷 / 05期

基金：

美国国家卫生研究院;

关键词：

colorectal cancer; Lynch syndrome; biallelic mismatch repair deficiency; BMMRD; constitutional mismatch repair deficiency; CMMRD; cancer; DNA mismatch repair; childhood cancer; EUROPEAN CONSORTIUM CARE; URINARY-TRACT CANCER; LYNCH SYNDROME; MICROSATELLITE INSTABILITY; CORPUS-CALLOSUM; PMS2; MUTATIONS; YOUNG-PATIENTS; FOLLOW-UP; HEREDITARY; GUIDELINES;

D O I：

10.1097/MPG.0000000000001578

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

The US Multi-Society Task Force on Colorectal Cancer, with invited experts, developed a consensus statement and recommendations to assist health care providers with appropriate management of patients with biallelic mismatch repair deficiency (BMMRD) syndrome, also called constitutional mismatch repair deficiency syndrome. This position paper outlines what is known about BMMRD, the unique genetic and clinical aspects of the disease, and reviews the current management approaches to this disorder. This article represents a starting point from which diagnostic and management decisions can undergo rigorous testing for efficacy. There is a lack of strong evidence and a requirement for further research. Nevertheless, providers need direction on how to recognize and care for BMMRD patients today. In addition to identifying areas of research, this article provides guidance for surveillance and management. The major challenge is that BMMRD is rare, limiting the ability to accumulate unbiased data and develop controlled prospective trials. The formation of effective international consortia that collaborate and share data is proposed to accelerate our understanding of this disease.

引用

页码：836 / 843

页数：8

共 58 条

[1] High frequency of mismatch repair deficiency among pediatric high grade gliomas in Jordan [J].

Amayiri, Nisreen ;

Tabori, Uri ;

Campbell, Brittany ;

Bakry, Doua ;

Aronson, Melyssa ;

Durno, Carol ;

Rakopoulos, Patricia ;

Malkin, David ;

Qaddoumi, Ibrahim ;

Musharbash, Awni ;

Swaidan, Maisa ;

Bouffet, Eric ;

Hawkins, Cynthia ;

Al-Hussaini, Maysa .

INTERNATIONAL JOURNAL OF CANCER, 2016, 138 (02) :380-385

[2] Pitfalls in the diagnosis of biallelic PMS2 mutations [J].

Antelo, Marina ;

Milito, Daniela ;

Rhees, Jennifer ;

Roca, Enrique ;

Barugel, Miguel ;

Cuatrecasas, Miriam ;

Moreira, Leticia ;

Leoz, Maria Liz ;

Carballal, Sabela ;

Ocana, Teresa ;

Pellise, Maria ;

Castells, Antoni ;

Boland, C. Richard ;

Goel, Ajay ;

Balaguer, Francesc .

FAMILIAL CANCER, 2015, 14 (03) :411-414

[3] Gastrointestinal Findings in the Largest Series of Patients With Hereditary Biallelic Mismatch Repair Deficiency Syndrome: Report from the International Consortium [J].

Aronson, Melyssa ;

Gallinger, Steven ;

Cohen, Zane ;

Cohen, Shlomi ;

Dvir, Rina ;

Elhasid, Ronit ;

Baris, Hagit N. ;

Kariv, Revital ;

Druker, Harriet ;

Chan, Helen ;

Ling, Simon C. ;

Kortan, Paul ;

Holter, Spring ;

Semotiuk, Kara ;

Malkin, David ;

Farah, Roula ;

Sayad, Alain ;

Heald, Brandie ;

Kalady, Matthew F. ;

Penney, Lynette S. ;

Rideout, Andrea L. ;

Rashid, Mohsin ;

Hasadsri, Linda ;

Pichurin, Pavel ;

Riegert-Johnson, Douglas ;

Campbell, Brittany ;

Bakry, Doua ;

Al-Rimawi, Hala ;

Alharbi, Qasim Kholaif ;

Alharbi, Musa ;

Shamvil, Ashraf ;

Tabori, Uri ;

Durno, Carol .

AMERICAN JOURNAL OF GASTROENTEROLOGY, 2016, 111 (02) :275-284

[4] Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome [J].

Baas, Annette F. ;

Gabbett, Michael ;

Rimac, Milan ;

Kansikas, Minttu ;

Raphael, Martine ;

Nievelstein, Rutger A. J. ;

Nicholls, Wayne ;

Offerhaus, Johan ;

Bodmer, Danielle ;

Wernstedt, Annekatrin ;

Krabichler, Birgit ;

Strasser, Ulrich ;

Nystrom, Minna ;

Zschocke, Johannes ;

Robertson, Stephen P. ;

van Haelst, Mieke M. ;

Wimmer, Katharina .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2013, 21 (01) :55-61

[5] Surveillance for urinary tract cancer in Lynch syndrome [J].

Bernstein, Inge Thomsen ;

Myrhoj, Torben .

FAMILIAL CANCER, 2013, 12 (02) :279-284

[6] Case 6-2016: A 10-Year-Old Boy with Abdominal Cramping and Fevers [J].

Biller, Jeffrey A. ;

Butros, S. Reha ;

Chan-Smutko, Gayun ;

Abrams, Annah N. ;

Chung, Daniel C. ;

Hagen, Catherine E. .

NEW ENGLAND JOURNAL OF MEDICINE, 2016, 374 (08) :772-781

[7] Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents [J].

Bodo, Sahra ;

Colas, Chrystelle ;

Buhard, Olivier ;

Collura, Ada ;

Tinat, Julie ;

Lavoine, Noernie ;

Guilloux, Agathe ;

Chalastanis, Alexandra ;

Lafitte, Philippe ;

Coulet, Florence ;

Buisine, Marie-Pierre ;

Ilencikova, Denisa ;

Ruiz-Ponte, Clara ;

Kinzel, Miriam ;

Grandjouan, Sophie ;

Brems, Hi Ide ;

Lejeune, Sophie ;

Blanche, Helene ;

Wang, Qing ;

Caron, Olivier ;

Cabaret, Odile ;

Syrcek, Maga Li ;

Vidaud, Dominique ;

Parfait, Beatrice ;

Verloes, Alain ;

Knappe, Ulrich J. ;

Soubrier, Florent ;

Mortemousque, Isabelle ;

Leis, Alexander ;

Auclair-Perrossier, Jessie ;

Frebourg, Thierry ;

Flejou, Jean-Francois ;

Entz-Werle, Natacha ;

Leclerc, Julie ;

Malka, David ;

Cohen-Haguenauer, Odile ;

Goldberg, Yael ;

Gerdes, Anne-Marie ;

Fedhila, Faten ;

Mathieu-Dramard, Michele ;

Lin, Richard Hame ;

Wafaa, Badre ;

Gauthier-Villars, Marion ;

Bourdeaut, Franck ;

Sheridan, Eamonn ;

Vasen, Hans ;

Brugieres, Laurence ;

Wimmer, Katharina ;

Muleris, Martine ;

Duva, Alex .

GASTROENTEROLOGY, 2015, 149 (04) :1017-U752

[8] Evolution of the nomenclature for the hereditary colorectal cancer syndromes [J].

Boland, CR .

FAMILIAL CANCER, 2005, 4 (03) :211-218

[9] Immune Checkpoint Inhibition for Hypermutant Glioblastoma Multiforme Resulting From Germline Biallelic Mismatch Repair Deficiency [J].

Bouffet, Eric ;

Larouche, Valerie ;

Campbell, Brittany B. ;

Merico, Daniele ;

de Borja, Richard ;

Aronson, Melyssa ;

Durno, Carol ;

Krueger, Joerg ;

Cabric, Vanja ;

Ramaswamy, Vijay ;

Zhukova, Nataliya ;

Mason, Gary ;

Farah, Roula ;

Afzal, Samina ;

Yalon, Michal ;

Rechavi, Gideon ;

Magimairajan, Vanan ;

Walsh, Michael F. ;

Constantini, Shlomi ;

Dvir, Rina ;

Elhasid, Ronit ;

Reddy, Alyssa ;

Osborn, Michael ;

Sullivan, Michael ;

Hansford, Jordan ;

Dodgshun, Andrew ;

Klauber-Demore, Nancy ;

Peterson, Lindsay ;

Patel, Sunil ;

Lindhorst, Scott ;

Atkinson, Jeffrey ;

Cohen, Zane ;

Laframboise, Rachel ;

Dirks, Peter ;

Taylor, Michael ;

Malkin, David ;

Albrecht, Steffen ;

Dudley, Roy W. R. ;

Jabado, Nada ;

Hawkins, Cynthia E. ;

Shlien, Adam ;

Tabori, Uri .

JOURNAL OF CLINICAL ONCOLOGY, 2016, 34 (19) :2206-+

[10] Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial [J].

Burn, John ;

Gerdes, Anne-Marie ;

Macrae, Finlay ;

Mecklin, Jukka-Pekka ;

Moeslein, Gabriela ;

Olschwang, Sylviane ;

Eccles, Diane ;

Evans, D. Gareth ;

Maher, Eamonn R. ;

Bertario, Lucio ;

Bisgaard, Marie-Luise ;

Dunlop, Malcolm G. ;

Ho, Judy W. C. ;

Hodgson, Shirley V. ;

Lindblom, Annika ;

Lubinski, Jan ;

Morrison, Patrick J. ;

Murday, Victoria ;

Ramesar, Raj ;

Side, Lucy ;

Scott, Rodney J. ;

Thomas, Huw J. W. ;

Vasen, Hans F. ;

Barker, Gail ;

Crawford, Gillian ;

Elliott, Faye ;

Movahedi, Mohammad ;

Pylvanainen, Kirsi ;

Wijnen, Juul T. ;

Fodde, Riccardo ;

Lynch, Henry T. ;

Mathers, John C. ;

Bishop, D. Timothy .

LANCET, 2011, 378 (9809) :2081-2087

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