MutYH-ассоциированный полипоз толстой кишки - Журнал Терапевтический архив №2 Вопросы гастроэнтерологии 2019
MutYH-ассоциированный полипоз толстой кишки
Тобоева М.Х., Шелыгин Ю.А., Фролов С.А. и др. MutYH-ассоциированный полипоз толстой кишки. Терапевтический архив. 2019; 91 (2): 8–100.
DOI: 10.26442/00403660.2019.02.000124
DOI: 10.26442/00403660.2019.02.000124
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Аннотация
MutYH-ассоциированный полипоз является единственным полипозным синдромом с аутосомно-рецессивным типом наследования, часто фенотипически схожим с ослабленной формой семейного аденоматоза толстой кишки. Для развития заболевания необходимы мутации в обоих аллелях гена, однако отмечен повышенный риск развития колоректального рака у носителей моноаллельных мутаций. Диагноз MutYH-ассоциированного полипоза должен подозреваться при колоректальном раке у больного старше 45 лет на фоне полипов в толстой кишке. В обзоре представлены современные алгоритмы диагностики и лечения заболевания.
Ключевые слова: MutYH-ассоциированный полипоз, семейный аденоматоз толстой кишки, биаллельная мутация, моноаллельная мутация, колэктомия.
Keywords: MutYH-associated polyposis, familial adenomatous polyposis, biallelic mutation, monoallelic mutation, colectomy.
Ключевые слова: MutYH-ассоциированный полипоз, семейный аденоматоз толстой кишки, биаллельная мутация, моноаллельная мутация, колэктомия.
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Keywords: MutYH-associated polyposis, familial adenomatous polyposis, biallelic mutation, monoallelic mutation, colectomy.
Список литературы
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2. Boparai KS, Dekker E, van Eeden S, et al. Hyperplastic polyps and sessile serrated adenomas as a phenotypic expression of MYH-associated polyposis. Gastroenterology. 2008;135(6):2014-8. doi: 10.1053/j.gastro.2008.09.020
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19. Kantor M, Sobrado J, Patel S, et al. Hereditary Colorectal Tumors: A Literature Review on MUTYH-associated Polyposis. Gastroenterol Res Pract. 2017;2017:Article ID 8693182, 4 p. doi: 10.1155/2017/8693182
20. Цуканов А.С., Поспехова Н.И., Шубин В.П. и др. Мутации в гене АРС у российских пациентов с классической формой семейного аденоматоза толстой кишки. Генетика. 2017;53(3):356-63 [Tsukanov AS, Pospekhova NI, Shubin VP’ et al. Mutations in the ARS gene in Russian patients with the classic form of familial adenomatosis of the colon. Genetika. 2017;53(3):356-63 (In Russ.)]. doi: 10.7868/S0016675817030134
21. Чернышов С.В., Орлова Л.П., Жданкина С.Н. и др. Высокая частота малигнизации ворсинчатых опухолей, как фактор риска, определяющий необходимость трансанальных эндоскопических операций. Колопроктология. 2013;44(2):3-8 [Chernyshov SV, Orlova LP, Zhdankina SN, et al. High frequency of malignancy of villous tumors, as a risk factor, which determines the need for transanal endoscopic operations. Koloproktologiya. 2013;44(2):3-8 (In Russ.)].
22. Nielson M, Hes FJ, Nagengast FM, et al. Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis. Clin Genet. 2007;71(5):427-33. doi: 10.1111/j.1399-0004.2007.00766.x
23. Vogt S, Jones N, Christian D, et al. Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. Gastroenterology. 2009;137(6):1976-85. doi: 10.1053/j.gastro.2009.08.052
24. Poulsen ML, Bisgaard ML. MUTYH-associated polyposis (MAP). Curr Genom. 2009;9(6):420-35. doi: 10.2174/138920208785699562
25. Goodenberger M, Lindor NM. Lynch syndrome and MYH-associated polyposis: review and testing strategy. J Clin Gastroenterol. 2011;45(6):488-500. doi: 10.1097/MCG.0b013e318206489c
26. Leite J, Isidro G, Martins M, et al. Is prophylactic colectomy indicated in patients with MYH-associated polyposis? Colorectal Dis. 2005;7:327-31. doi: 10.1111/j.1463-1318.2005.00811.x
27. National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology. Genetic/familial high-risk assessment: Colorectal. National Comprehensive Cancer Network, 2014.
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31. Setti-Carraro P, Nicholls R. Choice of prophylactic surgery for the large bowel component of familial adenomatous polyposis. Br J Surg. 1996;83:885-92.
32. Кайзер Андреас М. Колоректальная хирургия. М.: Изд-во БИНОМ; 2011. 737 с. [Kayzer Andreas M. Kolorektal'naya khirurgiya [Colorectal surgery]. Moscow: BINOM; 2011. 737 p. (In Russ.)].
33. Browning SM, Nivatvongs S. Intraoperative abandonment of ileal pouch to anal anastomosis – the Mayo Clinic experience. J Am Coll Surg. 1998;186:441-5.
34. Wallace M, Phillips R. Preventative strategies for periampullary tumours in FAP. Ann Oncol. 1999;10:201-3.
35. Kartheuser A, Stangherlin H, Brandt L, et al. Restorative proctocolectomy and ileal pouch – anal anastomosis for familial adenomatous polyposis revisited. Fam Cancer. 2006;5:241-60.
36. Uyeda J, Lebedis C, Penn D, et al. Ileal pouch-anal anastomosis surgery: anatomy, postoperative complications, and image-guided intervention. Semin Ultrasound CT MR. 2013;34:299-310. doi: 10.1053/j.sult.2013.03.003
37. Al-Sanea N, Alfaifi J, Homoud S, et al. Outcome after ileal pouch-anal anastomosis for familial adenomatous polyposis compared to mucosal ulcerative colitis in a Middle Eastern population. Ann Saudi Med. 2013;33:268-72. doi: 10.5144/0256-4947.2013.268
38. Thompson-Fawcett M, Marcus V, Redston M, et al. Adenomatous polyps develop commonly in the ileal pouch of patients with familial adenomatous polyposis. Dis Colon Rectum. 2001;44:347-53.
2. Boparai KS, Dekker E, van Eeden S, et al. Hyperplastic polyps and sessile serrated adenomas as a phenotypic expression of MYH-associated polyposis. Gastroenterology. 2008;135(6):2014-8. doi: 10.1053/j.gastro.2008.09.020
3. Pezzi A, Roncucci L, Benatti P, et al. Relative role of APC and MUTYH mutations in the pathogenesis of familial adenomatous polyposis. Scand J Gastroenterol. 2009;44(9):1092-100. doi: 10.1080/00365520903100481
4. Shelygin YuA, Kashnikov VN, Frolov SA, et al. Molecular genetic investigation of hereditary predisposition to different forms of colonic polyposis. Koloproktologiya. 2013;43(1):9-14 (In Russ.)
5. Ozdemir Y, Kalady M, Aytac E, et al. Anal transitional zone neoplasia in patients with familial adenomatous polyposis after restorative proctocolectomy and IPAA: incidence, management, and oncologic and functional outcomes. Dis Colon Rectum. 2013;56:808-14. doi: 10.1097/DCR.0b013e31829005db
6. Sampson JR, Dolwani S, Jones S, et al. Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. Lancet. 2003;362(9377):39-41. doi: 10.1016/S0140-6736(03)13805-6
7. Sieber OM, Lipton L, Crabtree M, et al. Multiple colorectal adenomas, classic adenomatous polyposis, and germline mutations in MYH. New Engl J Med. 2003;348(9):791-9. doi: 10.1056/NEJMoa025283
8. Nielson M, Morreau H, Vasen H, et al. MUTYH-associated polyposis (MAP). Crit Rev Oncol Hematol. 2011;79(1):1-16. doi: 10.1016/j.critrevonc.2010.05.011
9. Sampson JR, Jones S, Dolwani S, et al. MutYH (MYH) and colorectal cancer. Biochem Soc Transact. 2005;33(4):679-83. doi: 10.1042/BST0330679
10. Syngal S, Brand RE, Church JM, et al. ACG clinical guideline: genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol. 2015;110(2):223-62. doi: 10.1038/ajg.2014.435
11. Kastrinos F, Syngal S. Inherited Colorectal Cancer Syndromes. Cancer J. 2011;17(6):405-15. doi: 10.1097/PPO.0b013e318237e408
12. Al-Tassan N, Chmiel NH, Maynard J, et al. Inherited variants of MYH associated with somatic G:C/T:A mutations in colorectal tumors. Nat Genet. 2002;30(2):227-32. doi: 10.1038/ng828
13. Win AK, Dowty JG, Cleary SP, et al. Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer. Gastroenterology. 2014;146(5):1208-11. doi: 10.1053/j.gastro.2014.01.022
14. Leoz M, Carballal S, Moreira L, et al. The genetic basis of familial adenomatous polyposis and its implications for clinical practice and risk management. Applicat Clin Genet. 2015;8:95-107. doi: 10.2147/TACG.S51484
15. Guarinos C, Juarez M, Egoavil C, et al. Prevalence and characteristics of MUTYH-associated polyposis in patients with multiple adenomatous and serrated polyps. Clin Cancer Res. 2014;20(5):1158-68. doi: 10.1158/1078-0432.CCR-13-1490
16. Balaguer F, Castellvi-Bel S, Castells A, et al. Identification of MYH mutation carriers in colorectal cancer: a multicenter, case-control, population-based study. Clin Gastroenterol Hepatol. 2007;5(3):379-87. doi: 10.1016/j.cgh.2006.12.025
17. Wang L, Baudhuin LM, Boardman LA, et al. MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps. Gastroenterology. 2004;127:9-16.
18. Schlussel A, Gagliano R, Seto-Donlon S, et al. The evolution of colorectal сancer genetics – Part 2: clinical implications and applications. Gastrointest Oncol. 2014;5:336-44. doi: 10.3978/j.issn.2078-6891.2014.068
19. Kantor M, Sobrado J, Patel S, et al. Hereditary Colorectal Tumors: A Literature Review on MUTYH-associated Polyposis. Gastroenterol Res Pract. 2017;2017:Article ID 8693182, 4 p. doi: 10.1155/2017/8693182
20. Tsukanov AS, Pospekhova NI, Shubin VP’ et al. Mutations in the ARS gene in Russian patients with the classic form of familial adenomatosis of the colon. Genetika. 2017;53(3):356-63 (In Russ.) doi: 10.7868/S0016675817030134
21. Chernyshov SV, Orlova LP, Zhdankina SN, et al. High frequency of malignancy of villous tumors, as a risk factor, which determines the need for transanal endoscopic operations. Koloproktologiya. 2013;44(2):3-8 (In Russ.)
22. Nielson M, Hes FJ, Nagengast FM, et al. Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis. Clin Genet. 2007;71(5):427-33. doi: 10.1111/j.1399-0004.2007.00766.x
23. Vogt S, Jones N, Christian D, et al. Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. Gastroenterology. 2009;137(6):1976-85. doi: 10.1053/j.gastro.2009.08.052
24. Poulsen ML, Bisgaard ML. MUTYH-associated polyposis (MAP). Curr Genom. 2009;9(6):420-35. doi: 10.2174/138920208785699562
25. Goodenberger M, Lindor NM. Lynch syndrome and MYH-associated polyposis: review and testing strategy. J Clin Gastroenterol. 2011;45(6):488-500. doi: 10.1097/MCG.0b013e318206489c
26. Leite J, Isidro G, Martins M, et al. Is prophylactic colectomy indicated in patients with MYH-associated polyposis? Colorectal Dis. 2005;7:327-31. doi: 10.1111/j.1463-1318.2005.00811.x
27. National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology. Genetic/familial high-risk assessment: Colorectal. National Comprehensive Cancer Network, 2014.
28. Vasen HF, Moslein G, Alonso A, et al. Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut. 2008;57(5):704-13. doi: 10.1136/gut.2007.136127
29. Brosens L, Keller J, Offerhaus G, et al. Prevention and management of duodenal polyps in familial adenomatous polyposis. Gut. 2005;54:1034-43. doi: 10.1136/gut.2004.053843
30. Shelygin YuA. Klinicheskie rekomendatsii. Koloproktologiya [Clinical guidelines. Coloproctology]. 2nd ed. Moscow: GEOTAR-Media; 2017. P. 352-68 (In Russ.)
31. Setti-Carraro P, Nicholls R. Choice of prophylactic surgery for the large bowel component of familial adenomatous polyposis. Br J Surg. 1996;83:885-92.
32. Kayzer Andreas M. Kolorektal'naya khirurgiya [Colorectal surgery]. Moscow: BINOM; 2011. 737 p. (In Russ.)
33. Browning SM, Nivatvongs S. Intraoperative abandonment of ileal pouch to anal anastomosis – the Mayo Clinic experience. J Am Coll Surg. 1998;186:441-5.
34. Wallace M, Phillips R. Preventative strategies for periampullary tumours in FAP. Ann Oncol. 1999;10:201-3.
35. Kartheuser A, Stangherlin H, Brandt L, et al. Restorative proctocolectomy and ileal pouch – anal anastomosis for familial adenomatous polyposis revisited. Fam Cancer. 2006;5:241-60.
36. Uyeda J, Lebedis C, Penn D, et al. Ileal pouch-anal anastomosis surgery: anatomy, postoperative complications, and image-guided intervention. Semin Ultrasound CT MR. 2013;34:299-310. doi: 10.1053/j.sult.2013.03.003
37. Al-Sanea N, Alfaifi J, Homoud S, et al. Outcome after ileal pouch-anal anastomosis for familial adenomatous polyposis compared to mucosal ulcerative colitis in a Middle Eastern population. Ann Saudi Med. 2013;33:268-72. doi: 10.5144/0256-4947.2013.268
38. Thompson-Fawcett M, Marcus V, Redston M, et al. Adenomatous polyps develop commonly in the ileal pouch of patients with familial adenomatous polyposis. Dis Colon Rectum. 2001;44:347-53.
2. Boparai KS, Dekker E, van Eeden S, et al. Hyperplastic polyps and sessile serrated adenomas as a phenotypic expression of MYH-associated polyposis. Gastroenterology. 2008;135(6):2014-8. doi: 10.1053/j.gastro.2008.09.020
3. Pezzi A, Roncucci L, Benatti P, et al. Relative role of APC and MUTYH mutations in the pathogenesis of familial adenomatous polyposis. Scand J Gastroenterol. 2009;44(9):1092-100. doi: 10.1080/00365520903100481
4. Шелыгин Ю.А., Кашников В.Н., Фролов С.А. и др. Молекулярно-генетическое исследование наследственной предрасположенности к разным формам полипоза толстой кишки. Колопроктология. 2013;43(1):9-14 [Shelygin YuA, Kashnikov VN, Frolov SA, et al. Molecular genetic investigation of hereditary predisposition to different forms of colonic polyposis. Koloproktologiya. 2013;43(1):9-14 (In Russ.)].
5. Ozdemir Y, Kalady M, Aytac E, et al. Anal transitional zone neoplasia in patients with familial adenomatous polyposis after restorative proctocolectomy and IPAA: incidence, management, and oncologic and functional outcomes. Dis Colon Rectum. 2013;56:808-14. doi: 10.1097/DCR.0b013e31829005db
6. Sampson JR, Dolwani S, Jones S, et al. Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. Lancet. 2003;362(9377):39-41. doi: 10.1016/S0140-6736(03)13805-6
7. Sieber OM, Lipton L, Crabtree M, et al. Multiple colorectal adenomas, classic adenomatous polyposis, and germline mutations in MYH. New Engl J Med. 2003;348(9):791-9. doi: 10.1056/NEJMoa025283
8. Nielson M, Morreau H, Vasen H, et al. MUTYH-associated polyposis (MAP). Crit Rev Oncol Hematol. 2011;79(1):1-16. doi: 10.1016/j.critrevonc.2010.05.011
9. Sampson JR, Jones S, Dolwani S, et al. MutYH (MYH) and colorectal cancer. Biochem Soc Transact. 2005;33(4):679-83. doi: 10.1042/BST0330679
10. Syngal S, Brand RE, Church JM, et al. ACG clinical guideline: genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol. 2015;110(2):223-62. doi: 10.1038/ajg.2014.435
11. Kastrinos F, Syngal S. Inherited Colorectal Cancer Syndromes. Cancer J. 2011;17(6):405-15. doi: 10.1097/PPO.0b013e318237e408
12. Al-Tassan N, Chmiel NH, Maynard J, et al. Inherited variants of MYH associated with somatic G:C/T:A mutations in colorectal tumors. Nat Genet. 2002;30(2):227-32. doi: 10.1038/ng828
13. Win AK, Dowty JG, Cleary SP, et al. Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer. Gastroenterology. 2014;146(5):1208-11. doi: 10.1053/j.gastro.2014.01.022
14. Leoz M, Carballal S, Moreira L, et al. The genetic basis of familial adenomatous polyposis and its implications for clinical practice and risk management. Applicat Clin Genet. 2015;8:95-107. doi: 10.2147/TACG.S51484
15. Guarinos C, Juarez M, Egoavil C, et al. Prevalence and characteristics of MUTYH-associated polyposis in patients with multiple adenomatous and serrated polyps. Clin Cancer Res. 2014;20(5):1158-68. doi: 10.1158/1078-0432.CCR-13-1490
16. Balaguer F, Castellvi-Bel S, Castells A, et al. Identification of MYH mutation carriers in colorectal cancer: a multicenter, case-control, population-based study. Clin Gastroenterol Hepatol. 2007;5(3):379-87. doi: 10.1016/j.cgh.2006.12.025
17. Wang L, Baudhuin LM, Boardman LA, et al. MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps. Gastroenterology. 2004;127:9-16.
18. Schlussel A, Gagliano R, Seto-Donlon S, et al. The evolution of colorectal сancer genetics – Part 2: clinical implications and applications. Gastrointest Oncol. 2014;5:336-44. doi: 10.3978/j.issn.2078-6891.2014.068
19. Kantor M, Sobrado J, Patel S, et al. Hereditary Colorectal Tumors: A Literature Review on MUTYH-associated Polyposis. Gastroenterol Res Pract. 2017;2017:Article ID 8693182, 4 p. doi: 10.1155/2017/8693182
20. Цуканов А.С., Поспехова Н.И., Шубин В.П. и др. Мутации в гене АРС у российских пациентов с классической формой семейного аденоматоза толстой кишки. Генетика. 2017;53(3):356-63 [Tsukanov AS, Pospekhova NI, Shubin VP’ et al. Mutations in the ARS gene in Russian patients with the classic form of familial adenomatosis of the colon. Genetika. 2017;53(3):356-63 (In Russ.)]. doi: 10.7868/S0016675817030134
21. Чернышов С.В., Орлова Л.П., Жданкина С.Н. и др. Высокая частота малигнизации ворсинчатых опухолей, как фактор риска, определяющий необходимость трансанальных эндоскопических операций. Колопроктология. 2013;44(2):3-8 [Chernyshov SV, Orlova LP, Zhdankina SN, et al. High frequency of malignancy of villous tumors, as a risk factor, which determines the need for transanal endoscopic operations. Koloproktologiya. 2013;44(2):3-8 (In Russ.)].
22. Nielson M, Hes FJ, Nagengast FM, et al. Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis. Clin Genet. 2007;71(5):427-33. doi: 10.1111/j.1399-0004.2007.00766.x
23. Vogt S, Jones N, Christian D, et al. Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. Gastroenterology. 2009;137(6):1976-85. doi: 10.1053/j.gastro.2009.08.052
24. Poulsen ML, Bisgaard ML. MUTYH-associated polyposis (MAP). Curr Genom. 2009;9(6):420-35. doi: 10.2174/138920208785699562
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26. Leite J, Isidro G, Martins M, et al. Is prophylactic colectomy indicated in patients with MYH-associated polyposis? Colorectal Dis. 2005;7:327-31. doi: 10.1111/j.1463-1318.2005.00811.x
27. National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology. Genetic/familial high-risk assessment: Colorectal. National Comprehensive Cancer Network, 2014.
28. Vasen HF, Moslein G, Alonso A, et al. Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut. 2008;57(5):704-13. doi: 10.1136/gut.2007.136127
29. Brosens L, Keller J, Offerhaus G, et al. Prevention and management of duodenal polyps in familial adenomatous polyposis. Gut. 2005;54:1034-43. doi: 10.1136/gut.2004.053843
30. Шелыгин Ю.А. Клинические рекомендации. Колопроктология. 2-е изд., испр. и доп. М.: ГЭОТАР-Медиа; 2017. С. 352-68 [Shelygin YuA. Klinicheskie rekomendatsii. Koloproktologiya [Clinical guidelines. Coloproctology]. 2nd ed. Moscow: GEOTAR-Media; 2017. P. 352-68 (In Russ.)].
31. Setti-Carraro P, Nicholls R. Choice of prophylactic surgery for the large bowel component of familial adenomatous polyposis. Br J Surg. 1996;83:885-92.
32. Кайзер Андреас М. Колоректальная хирургия. М.: Изд-во БИНОМ; 2011. 737 с. [Kayzer Andreas M. Kolorektal'naya khirurgiya [Colorectal surgery]. Moscow: BINOM; 2011. 737 p. (In Russ.)].
33. Browning SM, Nivatvongs S. Intraoperative abandonment of ileal pouch to anal anastomosis – the Mayo Clinic experience. J Am Coll Surg. 1998;186:441-5.
34. Wallace M, Phillips R. Preventative strategies for periampullary tumours in FAP. Ann Oncol. 1999;10:201-3.
35. Kartheuser A, Stangherlin H, Brandt L, et al. Restorative proctocolectomy and ileal pouch – anal anastomosis for familial adenomatous polyposis revisited. Fam Cancer. 2006;5:241-60.
36. Uyeda J, Lebedis C, Penn D, et al. Ileal pouch-anal anastomosis surgery: anatomy, postoperative complications, and image-guided intervention. Semin Ultrasound CT MR. 2013;34:299-310. doi: 10.1053/j.sult.2013.03.003
37. Al-Sanea N, Alfaifi J, Homoud S, et al. Outcome after ileal pouch-anal anastomosis for familial adenomatous polyposis compared to mucosal ulcerative colitis in a Middle Eastern population. Ann Saudi Med. 2013;33:268-72. doi: 10.5144/0256-4947.2013.268
38. Thompson-Fawcett M, Marcus V, Redston M, et al. Adenomatous polyps develop commonly in the ileal pouch of patients with familial adenomatous polyposis. Dis Colon Rectum. 2001;44:347-53.
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2. Boparai KS, Dekker E, van Eeden S, et al. Hyperplastic polyps and sessile serrated adenomas as a phenotypic expression of MYH-associated polyposis. Gastroenterology. 2008;135(6):2014-8. doi: 10.1053/j.gastro.2008.09.020
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16. Balaguer F, Castellvi-Bel S, Castells A, et al. Identification of MYH mutation carriers in colorectal cancer: a multicenter, case-control, population-based study. Clin Gastroenterol Hepatol. 2007;5(3):379-87. doi: 10.1016/j.cgh.2006.12.025
17. Wang L, Baudhuin LM, Boardman LA, et al. MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps. Gastroenterology. 2004;127:9-16.
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19. Kantor M, Sobrado J, Patel S, et al. Hereditary Colorectal Tumors: A Literature Review on MUTYH-associated Polyposis. Gastroenterol Res Pract. 2017;2017:Article ID 8693182, 4 p. doi: 10.1155/2017/8693182
20. Tsukanov AS, Pospekhova NI, Shubin VP’ et al. Mutations in the ARS gene in Russian patients with the classic form of familial adenomatosis of the colon. Genetika. 2017;53(3):356-63 (In Russ.) doi: 10.7868/S0016675817030134
21. Chernyshov SV, Orlova LP, Zhdankina SN, et al. High frequency of malignancy of villous tumors, as a risk factor, which determines the need for transanal endoscopic operations. Koloproktologiya. 2013;44(2):3-8 (In Russ.)
22. Nielson M, Hes FJ, Nagengast FM, et al. Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis. Clin Genet. 2007;71(5):427-33. doi: 10.1111/j.1399-0004.2007.00766.x
23. Vogt S, Jones N, Christian D, et al. Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. Gastroenterology. 2009;137(6):1976-85. doi: 10.1053/j.gastro.2009.08.052
24. Poulsen ML, Bisgaard ML. MUTYH-associated polyposis (MAP). Curr Genom. 2009;9(6):420-35. doi: 10.2174/138920208785699562
25. Goodenberger M, Lindor NM. Lynch syndrome and MYH-associated polyposis: review and testing strategy. J Clin Gastroenterol. 2011;45(6):488-500. doi: 10.1097/MCG.0b013e318206489c
26. Leite J, Isidro G, Martins M, et al. Is prophylactic colectomy indicated in patients with MYH-associated polyposis? Colorectal Dis. 2005;7:327-31. doi: 10.1111/j.1463-1318.2005.00811.x
27. National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology. Genetic/familial high-risk assessment: Colorectal. National Comprehensive Cancer Network, 2014.
28. Vasen HF, Moslein G, Alonso A, et al. Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut. 2008;57(5):704-13. doi: 10.1136/gut.2007.136127
29. Brosens L, Keller J, Offerhaus G, et al. Prevention and management of duodenal polyps in familial adenomatous polyposis. Gut. 2005;54:1034-43. doi: 10.1136/gut.2004.053843
30. Shelygin YuA. Klinicheskie rekomendatsii. Koloproktologiya [Clinical guidelines. Coloproctology]. 2nd ed. Moscow: GEOTAR-Media; 2017. P. 352-68 (In Russ.)
31. Setti-Carraro P, Nicholls R. Choice of prophylactic surgery for the large bowel component of familial adenomatous polyposis. Br J Surg. 1996;83:885-92.
32. Kayzer Andreas M. Kolorektal'naya khirurgiya [Colorectal surgery]. Moscow: BINOM; 2011. 737 p. (In Russ.)
33. Browning SM, Nivatvongs S. Intraoperative abandonment of ileal pouch to anal anastomosis – the Mayo Clinic experience. J Am Coll Surg. 1998;186:441-5.
34. Wallace M, Phillips R. Preventative strategies for periampullary tumours in FAP. Ann Oncol. 1999;10:201-3.
35. Kartheuser A, Stangherlin H, Brandt L, et al. Restorative proctocolectomy and ileal pouch – anal anastomosis for familial adenomatous polyposis revisited. Fam Cancer. 2006;5:241-60.
36. Uyeda J, Lebedis C, Penn D, et al. Ileal pouch-anal anastomosis surgery: anatomy, postoperative complications, and image-guided intervention. Semin Ultrasound CT MR. 2013;34:299-310. doi: 10.1053/j.sult.2013.03.003
37. Al-Sanea N, Alfaifi J, Homoud S, et al. Outcome after ileal pouch-anal anastomosis for familial adenomatous polyposis compared to mucosal ulcerative colitis in a Middle Eastern population. Ann Saudi Med. 2013;33:268-72. doi: 10.5144/0256-4947.2013.268
38. Thompson-Fawcett M, Marcus V, Redston M, et al. Adenomatous polyps develop commonly in the ileal pouch of patients with familial adenomatous polyposis. Dis Colon Rectum. 2001;44:347-53.
Авторы
М.Х. Тобоева1,2, Ю.А. Шелыгин1,2, С.А. Фролов2, А.М. Кузьминов2, А.С. Цуканов2
1 ФГБОУ ДПО «Российская медицинская академия непрерывного профессионального образования» Минздрава России, Москва, Россия;
2 ФГБУ «Государственный научный центр колопроктологии им. А.Н. Рыжих» Минздрава России, Москва, Россия
1 Russian Medical Academy of Continuing Professional Education of the Ministry of Health of the Russian Federation, Moscow, Russia;
2 A.N. Ryzhikh State Scientific Centre of Coloproctology of the Ministry of Health of the Russian Federation, Moscow, Russia
1 ФГБОУ ДПО «Российская медицинская академия непрерывного профессионального образования» Минздрава России, Москва, Россия;
2 ФГБУ «Государственный научный центр колопроктологии им. А.Н. Рыжих» Минздрава России, Москва, Россия
________________________________________________
1 Russian Medical Academy of Continuing Professional Education of the Ministry of Health of the Russian Federation, Moscow, Russia;
2 A.N. Ryzhikh State Scientific Centre of Coloproctology of the Ministry of Health of the Russian Federation, Moscow, Russia
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