Lynch syndrome; towards more personalized management?

被引:13
作者
Llach, Joan [1 ]
Pellise, Maria [1 ]
Monahan, Kevin [2 ,3 ,4 ]
机构
[1] Univ Barcelona, Inst Invest Biomed August Pi Sunyer IDIBAPS, Hosp Clin Barcelona, Dept Gastroenterol,Ctr Invest Biomed Red Enfermed, Barcelona, Spain
[2] Imperial Coll London, London HA1 3UJ, England
[3] St Marks Ctr Familial Intestinal Canc, Lynch Syndrome & Family Canc Clin, London HA1 3UJ, England
[4] St Marks, Polyposis Registry, London HA1 3UJ, England
关键词
Lynch syndrome; Colorectal cancer; Endometrial cancer; Colonoscopy; Prevention; HEREDITARY COLORECTAL-CANCER; RISK; NIVOLUMAB; COLECTOMY; ADENOMAS; FAMILIES; CARRIERS; ASPIRIN; TUMORS;
D O I
10.1016/j.bpg.2022.101790
中图分类号
R57 [消化系及腹部疾病];
学科分类号
摘要
Lynch syndrome is the most common inherited cause of colorectal (lifetime risk up to 70%) and endometrial cancer. The diagnosis of Lynch syndrome facilitates preventive measures aimed at reducing the incidence and mortality of cancer. Colonoscopic surveillance for colorectal cancer, aspirin, and prophylactic hysterectomy and bilateral salpo-oopherectomy for endometrial and/or ovarian cancer have demonstrated to effectively reduce cancer mortality in this population. However, the lifetime risk of each cancer in people with Lynch syndrome is gene-specific and may be modified by environmental factors. Furthermore, the benefits of surveillance strategies need to be balanced against the risk of over-diagnosis and be supported by evidence of improved outcomes from cancer diagnosis in surveillance. Therefore, people with Lynch syndrome may benefit from a personalized management approach.
引用
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页数:7
相关论文
共 42 条
[1]   Three molecular pathways model colorectal carcinogenesis in Lynch syndrome [J].
Ahadova, Aysel ;
Gallon, Richard ;
Gebert, Johannes ;
Ballhausen, Alexej ;
Endris, Volker ;
Kirchner, Martina ;
Stenzinger, Albrecht ;
Burn, John ;
Doeberitz, Magnus von Knebel ;
Blaeker, Hendrik ;
Kloor, Matthias .
INTERNATIONAL JOURNAL OF CANCER, 2018, 143 (01) :139-150
[2]   Advanced imaging for detection and differentiation of colorectal neoplasia: European Society of Gastrointestinal Endoscopy (ESGE) Guideline - Update 2019 [J].
Bisschops, Raf ;
East, James E. ;
Hassan, Cesare ;
Hazewinkel, Yark ;
Kaminski, Michal F. ;
Neumann, Helmut ;
Pellise, Maria ;
Antonelli, Giulio ;
Bustamante Balen, Marco ;
Coron, Emmanuel ;
Cortas, Georges ;
Iacucci, Marietta ;
Yuichi, Mori ;
Longcroft-Wheaton, Gaius ;
Pilonis, Nastazja ;
Puig, Ignasi ;
van Hooft, Jeanin E. ;
Dekker, Evelien .
ENDOSCOPY, 2019, 51 (12) :1155-1179
[3]  
Bohaumilitzky L, 2021, GASTROENTEROLOGY, V1
[4]  
Burn J, 2020, LANCET, V395, P1855, DOI 10.1016/S0140-6736(20)30366-4
[5]   The Manchester International Consensus Group recommendations for the management of gynecological cancers in Lynch syndrome [J].
Crosbie, Emma J. ;
Ryan, Neil A. J. ;
Arends, Mark J. ;
Bosse, Tjalling ;
Burn, John ;
Cornes, Joanna M. ;
Crawford, Robin ;
Eccles, Diana ;
Frayling, Ian M. ;
Ghaem-Maghami, Sadaf ;
Hampel, Heather ;
Kauff, Noah D. ;
Kitchener, Henry C. ;
Kitson, Sarah J. ;
Manchanda, Ranjit ;
McMahon, Raymond F. T. ;
Monahan, Kevin J. ;
Menon, Usha ;
Moller, Pal ;
Moslein, Gabriela ;
Rosenthal, Adam ;
Sasieni, Peter ;
Seif, Mourad W. ;
Singh, Naveena ;
Skarrott, Pauline ;
Snowsill, Tristan M. ;
Steele, Robert ;
Tischkowitz, Marc ;
Evans, D. Gareth ;
Sanchez, Angel Alonso ;
Bolton, James ;
Church, David ;
Donnelly, Karen ;
Edmondson, Richard J. ;
Gollop, Paula ;
Goodman, Selina ;
Hodgson, Shirley ;
Lalloo, Fiona ;
Lowry, Anne ;
Mcvey, Rhona J. ;
Miles, Tracie ;
Monahan, Kevin J. ;
Stormoken, Astrid ;
Stringfellow, Helen ;
Wallace, Andrew ;
Whyte, Luciya ;
Wilkinson, Nafisa ;
Wilson, Godfrey ;
Wilson, Jo ;
Wood, Nick .
GENETICS IN MEDICINE, 2019, 21 (10) :2390-2400
[6]   Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database [J].
Dominguez-Valentin, Mev ;
Sampson, Julian R. ;
Seppala, Toni T. ;
ten Broeke, Sanne W. ;
Plazzer, John-Paul ;
Nakken, Sigve ;
Engel, Christoph ;
Aretz, Stefan ;
Jenkins, Mark A. ;
Sunde, Lone ;
Bernstein, Inge ;
Capella, Gabriel ;
Balaguer, Francesc ;
Thomas, Huw ;
Evans, D. Gareth ;
Burn, John ;
Greenblatt, Marc ;
Hovig, Eivind ;
de Vos Tot Nederveen Cappel, Wouter H. ;
Sijmons, Rolf H. ;
Bertario, Lucio ;
Tibiletti, Maria Grazia ;
Cavestro, Giulia Martina ;
Lindblom, Annika ;
Della Valle, Adriana ;
Lopez-Kostner, Francisco ;
Gluck, Nathan ;
Katz, Lior H. ;
Heinimann, Karl ;
Vaccaro, Carlos A. ;
Buettner, Reinhard ;
Goergens, Heike ;
Holinski-Feder, Elke ;
Morak, Monika ;
Holzapfel, Stefanie ;
Hueneburg, Robert ;
von Knebel Doeberitz, Magnus ;
Loeffler, Markus ;
Rahner, Nils ;
Schackert, Hans K. ;
Steinke-Lange, Verena ;
Schmiegel, Wolff ;
Vangala, Deepak ;
Pylvanainen, Kirsi ;
Renkonen-Sinisalo, Laura ;
Hopper, John L. ;
Win, Aung Ko ;
Haile, Robert W. ;
Lindor, Noralane M. ;
Gallinger, Steven .
GENETICS IN MEDICINE, 2020, 22 (01) :15-25
[7]   Rapid Development of Colorectal Neoplasia in Patients With Lynch Syndrome [J].
Edelstein, Daniel L. ;
Axilbund, Jennifer ;
Baxter, Melanie ;
Hylind, Linda M. ;
Romans, Katharine ;
Griffin, Constance A. ;
Cruz-Correa, Marcia ;
Giardiello, Francis M. .
CLINICAL GASTROENTEROLOGY AND HEPATOLOGY, 2011, 9 (04) :340-343
[8]   Associations of Pathogenic Variants in MLH1, MSH2, and MSH6 With Risk of Colorectal Adenomas and Tumors and With Somatic Mutations in Patients With Lynch Syndrome [J].
Engel, Christoph ;
Ahadova, Aysel ;
Seppala, Toni T. ;
Aretz, Stefan ;
Bigirwamungu-Bargeman, Marloes ;
Blaeker, Hendrik ;
Bucksch, Karolin ;
Buettner, Reinhard ;
Cappel, Wouter T. De Vos Tot Nederveen ;
Endris, Volker ;
Holinski-Feder, Elke ;
Holzapfel, Stefanie ;
Hueneburg, Robert ;
Jacobs, Maarten A. J. M. ;
Koornstra, Jan J. ;
Langers, Alexandra M. ;
Lepisto, Anna ;
Morak, Monika ;
Moeslein, Gabriela ;
Peltomaeki, Paivi ;
Pylvaenaeinen, Kirsi ;
Rahner, Nils ;
Renkonen-Sinisalo, Laura ;
Schulmann, Karsten ;
Steinke-Lange, Verena ;
Stenzinger, Albrecht ;
Strassburg, Christian P. ;
van de Meeberg, Paul C. ;
van Kouwen, Mariette ;
van Leerdam, Monique ;
Vangala, Deepak B. ;
Vecht, Juda ;
Verhulst, Marie-Louise ;
Doeberitz, Magnus von Knebel ;
Weitz, Juergen ;
Zachariae, Silke ;
Loeffler, Markus ;
Mecklin, Jukka-Pekka ;
Kloor, Matthias ;
Vasen, Hans F. .
GASTROENTEROLOGY, 2020, 158 (05) :1326-1333
[9]   No Difference in Colorectal Cancer Incidence or Stage at Detection by Colonoscopy Among 3 Countries With Different Lynch Syndrome Surveillance Policies [J].
Engel, Christoph ;
Vasen, Hans F. ;
Seppala, Toni ;
Aretz, Stefan ;
Bigirwamungu-Bargeman, Marloes ;
de Boer, Sybrand Y. ;
Bucksch, Karolin ;
Buttner, Reinhard ;
Holinski-Feder, Elke ;
Holzapfel, Stefanie ;
Hueneburg, Robert ;
Jacobs, Maarten A. J. M. ;
Jarvinen, Heikki ;
Kloor, Matthias ;
Doeberitz, Magnus von Knebel ;
Koornstra, Jan J. ;
van Kouwen, Mariette ;
Langers, Alexandra M. ;
van de Meeberg, Paul C. ;
Morak, Monika ;
Moeslein, Gabriela ;
Nagengast, Fokko M. ;
Pylvanainen, Kirsi ;
Rahner, Nils ;
Renkonen-Sinisalo, Laura ;
Sanduleanu, Silvia ;
Schackert, Hans K. ;
Schmiegel, Wolff ;
Schulmann, Karsten ;
Steinke-Lange, Verena ;
Strassburg, Christian P. ;
Vecht, Juda ;
Verhulst, Marie-Louise ;
Cappel, Wouter de Vos Tot Nederveen ;
Zachariae, Silke ;
Mecklin, Jukka-Pekka ;
Loeffler, Markus .
GASTROENTEROLOGY, 2018, 155 (05) :1400-+
[10]  
Excellence TNI for H and C, 2017, MOL TEST STRAT LYNCH