Phẫu Thuật Ruột Kết ở Bệnh Nhân Hội Chứng Lynch: Khi Nào và Như Thế Nào?

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JAMA. 2011;305:2304–10. The authors describe cancer risks in Lynch syndrome according to the underlying mutation. Schmeler KM, Lynch HT, Chen LM, Munsell MF, Soliman PT, Clark MB, et al. Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome. N Engl J Med. 2006;354:261–9. Watson P, Vasen HF, Mecklin JP, Bernstein I, Aarnio M, Jarvinen HJ, et al. The risk of extra-colonic, extra-endometrial cancer in the Lynch syndrome. Int J Cancer. 2008;123:444–9. Jarvinen HJ, Aarnio M, Mustonen H, Aktan-Collan K, Aaltonen LA, Peltomaki P, et al. Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology. 2000;118:829–34. De Vos Tot Nederveen Cappel WH, Nagengast FM, Griffioen G, Menko FH, Taal BG, Kleibeuker JH, et al. Surveillance for hereditary nonpolyposis colorectal cancer: a long-term study on 114 families. Dis Colon Rectum. 2002;45:1588–94. 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This is the first report of the risk of developing high-risk adenomas (as well as colorectal cancer) after either a segmental colon resection or total colectomy in patients with HNPCC. De Vos Tot Nederveen Cappel WH, Buskens E, van Duijvendijk P, Cats A, Menko FH, Griffioen G, et al. Decision analysis in the surgical treatment of colorectal cancer due to a mismatch repair gene defect. Gut. 2003;52:1752–5. Fitzgibbons Jr RJ, Lynch HT, Stanislav GV, Watson PA, Lanspa SJ, Marcus JN, et al. Recognition and treatment of patients with hereditary nonpolyposis colon cancer (Lynch syndromes I and II). Ann Surg. 1987;206:289–95. Vasen HF, Mecklin JP, Watson P, Utsunomiya J, Bertario L, Lynch P, et al. Surveillance in hereditary nonpolyposis colorectal cancer: an international cooperative study of 165 families. The International Collaborative Group on HNPCC. Dis Colon Rectum. 1993;36:1–4. Kalady MF, McGannon E, Vogel JD, Manilich E, Fazio VW, Church JM. Risk of colorectal adenoma and carcinoma after colectomy for colorectal cancer in patients meeting Amsterdam criteria. Ann Surg. 2010;252:507,11. discussion 511-3. Natarajan N, Watson P, Silva-Lopez E, Lynch HT. Comparison of extended colectomy and limited resection in patients with Lynch syndrome. Dis Colon Rectum. 2010;53:77–82. Parry S, Win AK, Parry B, Macrae FA, Gurrin LC, Church JM, et al. Metachronous colorectal cancer risk for mismatch repair gene mutation carriers: the advantage of more extensive colon surgery. Gut. 2011;60:950–7. This is a large study across countries that reports long-term risk of developing colorectal cancer after segmental colon resection or total colectomy for colon cancer in Lynch syndrome. Rodriguez-Bigas MA, Vasen HF, Pekka-Mecklin J, Myrhoj T, Rozen P, Bertario L, et al. Rectal cancer risk in hereditary nonpolyposis colorectal cancer after abdominal colectomy. International Collaborative Group on HNPCC. Ann Surg. 1997;225:202–7. 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Laparoscopic colectomy for cancer is not inferior to open surgery based on 5-year data from the COST Study Group trial. Ann Surg. 2007;246:655–62. discussion 662-4. Colon Cancer Laparoscopic or Open Resection Study Group, Buunen M, Veldkamp R, Hop WC, Kuhry E, Jeekel J, et al. Survival after laparoscopic surgery versus open surgery for colon cancer: long-term outcome of a randomised clinical trial. Lancet Oncol. 2009;10:44–52. Liska D, Lee SW, Nandakumar G. Laparoscopic surgery for benign and malignant colorectal diseases. Surg Laparosc Endosc Percutan Tech. 2012;22:165–74. Van Dalen R, Church J, McGannon E, Fay S, Burke C, Clark B. Patterns of surgery in patients belonging to Amsterdam-positive families. Dis Colon Rectum. 2003;46:617–20. National Comprehensive Cancer Network (NCCN). Clinical practice guidelines in oncology (NCCN guidelines): colon cancer, version 3.2014. In: 2014. www.nccn.org/professionals/physician_gls/pdf/colon.pdf. Accessed 4/2 2014. Moslein G, Nelson H, Thibodeau S, Dozois RR. Rectal carcinomas in HNPCC. Langenbecks Arch Chir Suppl Kongressbd. 1998;115:1467–9. Lee JS, Petrelli NJ, Rodriguez-Bigas MA. Rectal cancer in hereditary nonpolyposis colorectal cancer. Am J Surg. 2001;181:207–10. Kalady MF, Lipman J, McGannon E, Church JM. Risk of colonic neoplasia after proctectomy for rectal cancer in hereditary nonpolyposis colorectal cancer. Ann Surg. 2012;255:1121–5. The authors report the largest and one of only a few studies that describe the risk of colon cancer and colon adenomas after proctectomy for rectal cancer in patients with HNPCC. Cirillo L, Urso ED, Parrinello G, Pucciarelli S, Moneghini D, Agostini M, et al. High risk of rectal cancer and of metachronous colorectal cancer in probands of families fulfilling the Amsterdam criteria. Ann Surg. 2013;257:900–4. Fazio VW, Kiran RP, Remzi FH, Coffey JC, Heneghan HM, Kirat HT, et al. Ileal pouch anal anastomosis: analysis of outcome and quality of life in 3707 patients. Ann Surg. 2013;257:679–85. Win AK, Parry S, Parry B, Kalady MF, Macrae FA, Ahnen DJ, et al. Risk of metachronous colon cancer following surgery for rectal cancer in mismatch repair gene mutation carriers. Ann Surg Oncol. 2013;20:1829–36. This is a large study across countries that reports long-term risk of developing colon cancer after proctectomy for rectal cancer in patients with Lynch syndrome. Mensenkamp AR, Vogelaar IP, van Zelst-Stams WA, Goossens M, Ouchene H, Hendriks-Cornelissen SJ, et al. Somatic mutations in MLH1 and MSH2 are a frequent cause of mismatch-repair deficiency in Lynch syndrome-like tumors. Gastroenterology. 2014;146:643–646.e8. Haraldsdottir S, Hampel H, Tomsic J, Frankel WL, Pearlman R, de la Chapelle A, et al. Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations. Gastroenterology. 2014;147:1308–1316.e1. The authors report a somatic cause for patients who have tumors with mismatch deficiency in colon or endometrial cancers that are not associated with a germline mutation. This defines a distinct risk of cancer development that is not elevated compared to the general population.