دورية أكاديمية
Colorectal cancer and advanced adenoma characteristics according to causative mismatch repair gene variant in Japanese colorectal surveillance for Lynch syndrome.
| العنوان: | Colorectal cancer and advanced adenoma characteristics according to causative mismatch repair gene variant in Japanese colorectal surveillance for Lynch syndrome. |
|---|---|
| المؤلفون: | Chino A; Department of Gastroenterology, Cancer Institute Hospital, Japanese Foundation for Cancer Research, 3-8-31 Ariake, Koto-hu, Tokyo, 138-8550, Japan. akiko.chino@jfcr.or.jp.; The Committee of Hereditary Colorectal Cancer, Japanese Society for Cancer of the Colon and Rectum, Tokyo, Japan. akiko.chino@jfcr.or.jp., Tanakaya K; The Committee of Hereditary Colorectal Cancer, Japanese Society for Cancer of the Colon and Rectum, Tokyo, Japan.; Department of Surgery, National Hospital Organization Iwakuni Clinical Center, Yamaguchi, Japan., Nakajima T; The Committee of Hereditary Colorectal Cancer, Japanese Society for Cancer of the Colon and Rectum, Tokyo, Japan.; Department of Clinical Genetics, Cancer Institute Hospital, Japanese Foundation for Cancer Research, Tokyo, Japan.; Department of Medical Ethics Medical Genetics, Graduate School of Medicine, Kyoto University, Kyoto, Japan., Akagi K; The Committee of Hereditary Colorectal Cancer, Japanese Society for Cancer of the Colon and Rectum, Tokyo, Japan.; Department of Molecular Diagnosis and Cancer Prevention, Saitama Cancer Center, Saitama, Japan., Takao A; The Committee of Hereditary Colorectal Cancer, Japanese Society for Cancer of the Colon and Rectum, Tokyo, Japan.; Department of Gastroenterology, Tokyo Metropolitan Cancer and Infectious Diseases Center, Komagome Hospital, Tokyo, Japan., Yamada M; The Committee of Hereditary Colorectal Cancer, Japanese Society for Cancer of the Colon and Rectum, Tokyo, Japan.; Endoscopy Division, National Cancer Center Hospital, Tokyo, Japan., Ishida H; The Committee of Hereditary Colorectal Cancer, Japanese Society for Cancer of the Colon and Rectum, Tokyo, Japan.; Department of Digestive Tract and General Surgery, Saitama Medical Center, Saitama Medical University, Saitama, Japan., Komori K; The Committee of Hereditary Colorectal Cancer, Japanese Society for Cancer of the Colon and Rectum, Tokyo, Japan.; Department of Gastroenterological Surgery, Aichi Cancer Center Hospital, Aichi, Japan., Sasaki K; The Committee of Hereditary Colorectal Cancer, Japanese Society for Cancer of the Colon and Rectum, Tokyo, Japan.; Department of Surgical Oncology, Faculty of Medicine, The University of Tokyo, Tokyo, Japan., Miguchi M; The Committee of Hereditary Colorectal Cancer, Japanese Society for Cancer of the Colon and Rectum, Tokyo, Japan.; Department of Gastroenterological Surgery, Hiroshima Prefectural Hospital, Hiroshima, Japan., Hirata K; The Committee of Hereditary Colorectal Cancer, Japanese Society for Cancer of the Colon and Rectum, Tokyo, Japan.; Department of Surgery 1, University of Occupational and Environmental Health, Kitakyushu, Japan., Sudo T; The Committee of Hereditary Colorectal Cancer, Japanese Society for Cancer of the Colon and Rectum, Tokyo, Japan.; Department of Surgery, Kurume University, Fukuoka, Japan., Miyakura Y; The Committee of Hereditary Colorectal Cancer, Japanese Society for Cancer of the Colon and Rectum, Tokyo, Japan.; Department of Surgery, Saitama Medical Center, Jichi Medical University, Saitama, Japan., Ishikawa T; The Committee of Hereditary Colorectal Cancer, Japanese Society for Cancer of the Colon and Rectum, Tokyo, Japan.; Department of Surgery, Tokyo Medical and Dental University, Tokyo, Japan.; Department of Medical Oncology, Juntendo University, Tokyo, Japan., Yamaguchi T; The Committee of Hereditary Colorectal Cancer, Japanese Society for Cancer of the Colon and Rectum, Tokyo, Japan.; Department of Gastroenterology, Tokyo Metropolitan Cancer and Infectious Diseases Center, Komagome Hospital, Tokyo, Japan., Tomita N; The Committee of Hereditary Colorectal Cancer, Japanese Society for Cancer of the Colon and Rectum, Tokyo, Japan.; Cancer Treatment Center, Toyonaka Municipal Hospital, Osaka, Japan., Ajioka Y; The Committee of Hereditary Colorectal Cancer, Japanese Society for Cancer of the Colon and Rectum, Tokyo, Japan.; Division of Molecular and Diagnostic Pathology, Graduate School of Medical and Dental Sciences, Niigata University, Niigata, Japan. |
| المصدر: | Journal of gastroenterology [J Gastroenterol] 2024 Aug; Vol. 59 (8), pp. 699-708. Date of Electronic Publication: 2024 Jun 21. |
| نوع المنشور: | Journal Article; Multicenter Study |
| اللغة: | English |
| بيانات الدورية: | Publisher: Springer International Country of Publication: Japan NLM ID: 9430794 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-5922 (Electronic) Linking ISSN: 09441174 NLM ISO Abbreviation: J Gastroenterol Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Tokyo : Springer International, c1994- |
| مواضيع طبية MeSH: | Colorectal Neoplasms, Hereditary Nonpolyposis*/genetics , Colorectal Neoplasms, Hereditary Nonpolyposis*/pathology , Colorectal Neoplasms, Hereditary Nonpolyposis*/diagnosis , Adenoma*/genetics , Adenoma*/pathology , Adenoma*/epidemiology , Colonoscopy* , Colorectal Neoplasms*/genetics , Colorectal Neoplasms*/pathology , Colorectal Neoplasms*/diagnosis , Colorectal Neoplasms*/epidemiology , MutL Protein Homolog 1*/genetics , DNA Mismatch Repair*/genetics , MutS Homolog 2 Protein*/genetics, Humans ; Male ; Female ; Middle Aged ; Retrospective Studies ; Japan/epidemiology ; Aged ; Adult ; Incidence ; DNA-Binding Proteins/genetics ; Germ-Line Mutation ; Time Factors ; Early Detection of Cancer/methods ; East Asian People |
| مستخلص: | Background: The optimal interval of colonoscopy (CS) surveillance in cases with Lynch syndrome (LS), and stratification according to the causative mismatch repair gene mutation, has received much attention. To verify a feasible and effective CS surveillance strategy, we investigated the colorectal cancer (CRC) incidence at different intervals and the characteristics of precancerous colorectal lesions of LS cases. Methods: This retrospective multicenter study was conducted in Japan. CRCs and advanced adenomas (AAs) in 316 LS cases with germline pathogenic variants (path_) were analyzed according to the data of 1,756 registered CS. Results: The mean time interval for advanced CRCs (ACs) detected via CS surveillance was 28.7 months (95% confidence interval: 13.8-43.5). The rate of AC detection within (2.1%) and beyond 2 years (8.7%) differed significantly (p = 0.0003). AAs accounted for 43%, 46%, and 41% of lesions < 10 mm in size in the MLH1-, MSH2-, and MSH6-groups, respectively. The lifetime incidence of metachronous CRCs requiring intestinal resection for path_MLH1, path_MSH2, and path_MSH6 cases was 34%, 23%, and 14% in these cases, respectively. The cumulative CRC incidence showed a trend towards a 10-year delay for path_MSH6 cases as compared with that for path_MLH1 and path_MSH2 cases. Conclusions: In cases with path_MLH1, path_MSH2, and path_MSH6, maintaining an appropriate CS surveillance interval of within 2 years is advisable to detect of the colorectal lesion amenable to endoscopic treatment. path_MSH6 cases could be stratified with path_MLH1 and MSH2 cases in terms of risk of metachronous CRC and age of onset. (© 2024. Japanese Society of Gastroenterology.) |
| References: | Lynch HT, Shaw MW, Magnuson CW, et al. Hereditary factors in cancer. Study of two large midwestern kindreds. Aech Arch Intern Med. 1966;117:206–12. (PMID: 10.1001/archinte.1966.03870080050009) Idos G MS, Valle l. Lynch syndrome gene reviews. Available via DIALOG. http://www.ncbi.nlm.nih.gov/books/NBK1211/ . Accessed 29 Jan 2024. InSiGHT. Lynch syndrome. Available at https://www.insight-group.org/syndromes/lynch-syndrome/ . Accessed 29 Jan 2024. Tanakaya K. Current clinical topics of Lynch syndrome. Int J Clin Oncol. 2019;24:1013–9. (PMID: 10.1007/s10147-018-1282-729744602) Vasen HFA, Blanco I, Aktan-Collan K, et al. Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. Gut. 2013;62:812–23. (PMID: 10.1136/gutjnl-2012-30435623408351) Vasen HF, Abdirahman M, Brohet R, et al. One to 2-year surveillance intervals reduce risk of colorectal cancer in families with Lynch syndrome. Gastroenterology. 2010;138:2300–6. (PMID: 10.1053/j.gastro.2010.02.05320206180) Engel C, Rahner N, Schulmann K, et al. Efficacy of annual colonoscopic surveillance in individuals with hereditary nonpolyposis colorectal cancer. Clin Gastroenterol Hepatol. 2010;8:174–82. (PMID: 10.1016/j.cgh.2009.10.00319835992) National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: genetic/familial high-risk assessment: colorectal. Version 1. 2023. http://www.nccn.org . Accessed 29 Jan 2024. Bonadona V, Bonaïti B, Olschwang S, et al. Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. JAMA. 2011;305:2304–10. (PMID: 10.1001/jama.2011.74321642682) Ryan NAJ, Morris J, Green K, et al. Association of mismatch repair mutation with age at cancer onset in Lynch syndrome: implications for stratified surveillance strategies. JAMA Oncol. 2017;3:1702–6. (PMID: 10.1001/jamaoncol.2017.0619287722895824283) Møller P, Seppälä T, Bernstein I, et al. Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database. Gut. 2017;66:464–72. (PMID: 10.1136/gutjnl-2015-30967526657901) Engel C, Vasen HF, Seppälä T, et al. No difference in colorectal cancer incidence or stage at detection by colonoscopy among 3 countries with different Lynch syndrome surveillance policies. Gastroenterology. 2018;155:1400-9.e2. (PMID: 10.1053/j.gastro.2018.07.03030063918) Seppälä TT, Ahadova A, Dominguez-Valentin M, et al. Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over- diagnosis; a prospective Lynch syndrome database report. Hered Cancer Clin Pract. 2019;17:8. (PMID: 10.1186/s13053-019-0106-8308589006394091) Corley DA, Jensen CD, Marks AR, et al. Adenoma detection rate and risk of colorectal cancer and death. N Engl J Med. 2014;370:1298–306. (PMID: 10.1056/NEJMoa1309086246938904036494) Japanese Society for Cancer of the Colon and Rectum. Japanese classification of colorectal, appendiceal, and anal carcinoma. J Anus Rectum Colon. 2019;18:175–95. (PMID: 10.23922/jarc.2019-018) Brierley JD, Gospodarowicz MK, Wittekind C, et al. UICC TNM classification of malignant tumours. 8th ed. Oxford: Wiley-Blackwell; 2017. p. 272. Matthew DR, Iisif B, Roland V, et al. World endoscopy organization consensus statements on post-colonoscopy and post-imaging colorectal cancer. Gastroenterology. 2018;155:909–25. (PMID: 10.1053/j.gastro.2018.05.038) Iino H, Simms L, Young J, et al. DNA microsatellite instability and mismatch repair protein loss in adenomas presenting in hereditary non-polyposis colorectal cancer. Gut. 2000;47:37–42. (PMID: 10.1136/gut.47.1.37108612621727981) Sekine S, Mori T, Ogawa R, et al. Mismatch repair deficiency commonly precedes adenoma formation in Lynch syndrome-associated colorectal tumorigenesis. Mod Pathol. 2017;30:1144–51. (PMID: 10.1038/modpathol.2017.3928548127) Hatamori H, Chino A, Arai M, et al. Malignant potential of colorectal neoplasms in Lynch syndrome: an analysis of 325 lesions endoscopically treated at a single institute. Jpn J Clin Oncol. 2021;51:737–43. (PMID: 10.1093/jjco/hyab01033558893) Sakamoto T, Matsuda T, Nakajima Y, et al. clinicopathological features of colorectal polyps: evaluation of the ‘predict, resect and discard’ strategies. Colorectal Dis. 2013;15:295–300. (PMID: 10.1111/codi.12210) Ahadova A, von Knebel Doeberitz MK, Bläker H, et al. CTNNB1-mutant colorectal carcinomas with immediate invasive growth: A model of interval cancers in Lynch syndrome. Fam Cancer. 2016;15:579–86. (PMID: 10.1007/s10689-016-9899-z26960970) Ahadova A, Gallon R, Gebert J, et al. Three molecular pathways model colorectal carcinogenesis in Lynch syndrome. Int J Cancer. 2018;143:139–50. (PMID: 10.1002/ijc.3130029424427) Engel C, Ahadova A, Seppälä TT, et al. 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. Gastroenterology. 2020;158:1326–33. (PMID: 10.1053/j.gastro.2019.12.03231926173) Rondagh EJA, Gulikers S, Gómez-García EB, et al. Nonpolypoid colorectal neoplasms: a challenge in endoscopic surveillance of patients with Lynch syndrome. Endoscopy. 2013;45:257–64. (PMID: 10.1055/s-0032-132619523440588) Rivero-Sánchez L, Arnau-Collell C, Herrero J, et al. White-Light endoscopy is adequate for Lynch syndrome surveillance in a randomized and noninferiority study. Gastroenterology. 2020;158:895-904.e1. (PMID: 10.1053/j.gastro.2019.09.00331520613) Perrod G, Samaha E, Rahmi G, et al. Impact of an optimized colonoscopic screening program for patients with Lynch syndrome: 6-Year results of a specialized French network. Therap Adv Gastroenterol. 2018;11:1756284818775058. (PMID: 10.1177/1756284818775058298724545974573) Ahadova A, Seppälä TT, Engel C, et al. The “unnatural” history of colorectal cancer in Lynch syndrome: lessons from colonoscopy surveillance. Int J Cancer. 2021;148:800–11. (PMID: 10.1002/ijc.3322432683684) Perrod G, Rahmi G, Cellier C. Colorectal cancer screening in Lynch syndrome: indication, techniques and future perspectives. Dig Endosc. 2021;33:520–8. (PMID: 10.1111/den.1370232314431) Møller P, Seppälä TT, Bernstein I, et al. 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. Gut. 2018;67:1306–16. (PMID: 10.1136/gutjnl-2017-31405728754778) Møller P, Seppälä T, Bernstein I, et al. Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database. Gut. 2017;66:1657–64. (PMID: 10.1136/gutjnl-2016-31140327261338) Liljegren A, Barker G, Elliott F, et al. Prevalence of adenomas and hyperplastic polyps in mismatch repair mutation carriers among CAPP2 participants: report by the colorectal adenoma/carcinoma prevention program 2. J Clin Oncol. 2008;26:3434–9. (PMID: 10.1200/JCO.2007.13.2795186121592645083) Staffa L, Echterdiek F, Nelius N, et al. Mismatch repair-deficient crypt foci in Lynch syndrome—molecular alterations and association with clinical parameters. PLoS ONE. 2015;10: e0121980. (PMID: 10.1371/journal.pone.0121980258161624376900) International Mismatch Repair Consortium. Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study. Lancet Oncol. 2021;22:1014–22. (PMID: 10.1016/S1470-2045(21)00189-38934577) Chikatani K, Ishida H, Mori Y, et al. Risk of metachronous colorectal cancer after colectomy for first colon cancer in Lynch syndrome: multicenter retrospective study in Japan. Int J Clinical Oncol. 2023;28:1633–40. (PMID: 10.1007/s10147-023-02412-z) |
| فهرسة مساهمة: | Keywords: Advanced adenoma; Interval colorectal cancer; Lynch syndrome; Quality indicator; Surveillance stratification |
| المشرفين على المادة: | EC 3.6.1.3 (MutL Protein Homolog 1) 0 (MLH1 protein, human) EC 3.6.1.3 (MutS Homolog 2 Protein) EC 3.6.1.3 (MSH2 protein, human) 0 (DNA-Binding Proteins) 0 (G-T mismatch-binding protein) |
| تواريخ الأحداث: | Date Created: 20240620 Date Completed: 20240728 Latest Revision: 20240808 |
| رمز التحديث: | 20240808 |
| DOI: | 10.1007/s00535-024-02128-5 |
| PMID: | 38902413 |
| قاعدة البيانات: | MEDLINE |
Find this article in full text from Springer Verlag. 
Full Text Finder | تدمد: | 1435-5922 |
|---|---|
| DOI: | 10.1007/s00535-024-02128-5 |