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Семейный аденоматозный полипоз: вопросы дифференциальной диагностики
Семейный аденоматозный полипоз: вопросы дифференциальной диагностики
Кит О.И., Геворкян Ю.А., Солдаткина Н.В. и др. Семейный аденоматозный полипоз: вопросы дифференциальной диагностики. Гастроэнтерология. Хирургия. Интенсивная терапия. Consilium Medicum. 2019; 1: 47–52.
DOI: 10.26442/26583739.2019.1.000006
Intensive care. Consilium Medicum. 2019; 1: 47–52.
DOI: 10.26442/26583739.2019.1.000006
DOI: 10.26442/26583739.2019.1.000006
________________________________________________
Intensive care. Consilium Medicum. 2019; 1: 47–52.
DOI: 10.26442/26583739.2019.1.000006
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Чтобы посмотреть материал полностью
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Аннотация
Введение. Актуальность проблемы семейного аденоматозного полипоза (САП) обусловлена как тяжестью самого заболевания с неизбежным развитием рака при отсутствии своевременного лечения, так и вовлеченностью в эту проблему кровных родственников пациента. В связи с редкостью этого заболевания вопросы дифференциальной диагностики требуют обсуждения.
Цель. Oпределить основные направления диагностики и дифференциальной диагностики САП.
Результаты. Проведен анализ литературных данных о наследственных полипозных синдромах и ненаследственных или генетически необъяснимых гастроинтестинальных полипозных синдромах. Выявлены дифференциальные диагностические критерии гастроинтестинальных полипозных синдромов.
Заключение. Проблема САП является мультидисциплинарной и включает врачей-терапевтов, гастроэнтерологов, педиатров, генетиков, эндоскопистов, рентгенологов, хирургов, онкологов. Корректно установленный диагноз поможет правильно определить тактику лечения и наблюдения пациентов.
Ключевые слова: семейный аденоматозный полипоз, дифференциальная диагностика.
Aim. The review’s aim is to state the main directions of FAP diagnostics and differential diagnostics.
Results. In this article the literature data on hereditary polyposis syndromes and non-hereditary or genetically unexplained gastrointestinal polyposis syndromes have been analyzed. Based on this analysis differential diagnostic criteria for gastrointestinal polyposis syndromes are established.
Conclusion. FAP problem is a multidisciplinary problem and it involves general practitioners, gastroenterologists, pediatricians, geneticists, endoscopists, radiologists, surgeons, oncologists. Establishing a correct diagnosis is essential for a selection of an appropriate treatment tactics and patients monitoring tactics.
Key words: familial adenomatous polyposis, differential diagnostics.
Цель. Oпределить основные направления диагностики и дифференциальной диагностики САП.
Результаты. Проведен анализ литературных данных о наследственных полипозных синдромах и ненаследственных или генетически необъяснимых гастроинтестинальных полипозных синдромах. Выявлены дифференциальные диагностические критерии гастроинтестинальных полипозных синдромов.
Заключение. Проблема САП является мультидисциплинарной и включает врачей-терапевтов, гастроэнтерологов, педиатров, генетиков, эндоскопистов, рентгенологов, хирургов, онкологов. Корректно установленный диагноз поможет правильно определить тактику лечения и наблюдения пациентов.
Ключевые слова: семейный аденоматозный полипоз, дифференциальная диагностика.
________________________________________________
Aim. The review’s aim is to state the main directions of FAP diagnostics and differential diagnostics.
Results. In this article the literature data on hereditary polyposis syndromes and non-hereditary or genetically unexplained gastrointestinal polyposis syndromes have been analyzed. Based on this analysis differential diagnostic criteria for gastrointestinal polyposis syndromes are established.
Conclusion. FAP problem is a multidisciplinary problem and it involves general practitioners, gastroenterologists, pediatricians, geneticists, endoscopists, radiologists, surgeons, oncologists. Establishing a correct diagnosis is essential for a selection of an appropriate treatment tactics and patients monitoring tactics.
Key words: familial adenomatous polyposis, differential diagnostics.
Полный текст
Список литературы
1. Ефимова И.Ю., Тимошкина Н.Н., Солдаткина Н.В. и др. Молекулярная диагностика герминальных мутаций в гене АРС. Сборник трудов IX Всероссийской научно-практической конференции с международным участием «Молекулярная диагностика 2017». Молекулярная диагностика. 2017; 1: 425–6.
[Efimova I.Iu., Timoshkina N.N., Soldatkina N.V. et al. Molekuliarnaia diagnostika germinal'nykh mutatsii v gene ARS. Sbornik trudov IX Vserossiiskoi nauchno-prakticheskoi konferentsii s mezhdunarodnym uchastiem "Molekuliarnaia diagnostika 2017'. Molekuliarnaia diagnostika. 2017; 1: 425–6 (in Russian).]
2. Кит О.И., Водолажский Ю.А., Геворкян Ю.А. и др. Наследственный колоректальный рак: генетика и скрининг. Рос. журн. гастроэнтерологии, гепатологии и колопроктологии. 2018; 28 (3): 18–25.
[Kit O.I., Vodolazhskii Iu.A., Gevorkian Iu.A. et al. Nasledstvennyi kolorektal'nyi rak: genetika i skrining. Ros. zhurn. gastroenterologii, gepatologii i koloproktologii. 2018; 28 (3): 18–25 (in Russian).]
3. Кит О.И., Геворкян Ю.А., Солдаткина Н.В. и др. Семейный аденоматоз толстой кишки: современное состояние проблемы. Терапевтический архив. 2018; 90 (2):
65–8.
[Kit O.I., Gevorkian Iu.A., Soldatkina N.V. et al. Semeinyi adenomatoz tolstoi kishki: sovremennoe sostoianie problemy. Therapeutic archive. 2018; 90 (2): 65–8 (in Russian).]
4. Aretz S, Propping P, Noethen M. Indikationen zur molekulargenetischen Diagnostik bei erblichen Krankheiten. Dtsch Arztebl 2006; 103: A550–A558.
5. Aretz S. The Differential Diagnosis and Surveillance of Hereditary Gastrointestinal Polyposis Syndromes. Dtsch Arztebl Int 2010; 107 (10): 163–73.
6. Brosens LA, van Hattem WA, Jansen M et al. Gastrointestinal polyposis syndromes. Curr Mol Med 2007; 7: 29–46.
7. Calva D et al. Hamartomatous polyposis syndromes. Surg Clin North Am 2008; 88: 779–817.
8. Cao Y, Pieretti M, Marshall J et al. Challenge in the differentiation between attenuated familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer: case report with review of the literature. Am J Gastroenterol 2002; 97: 1822–7.
9. Chow E, Lipton L, Lynch E et al. Hyperplastic polyposis syndrome: phenotypic presentations and the role of MBD4 and MYH. Gastroenterology 2006; 131: 30–9.
10. Delnatte C, Sanlaville D, Mougenot JF et al. Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes. Am J Hum Genet 2006; 78: 1066–74.
11. Edelstein DL, Axilbund J, Baxter M et al. Rapid development of colorectal neoplasia in patients with Lynch syndrome. Clin Gastroenterol Hepatol 2011; 9: 340–3.
12. Friedl W, Caspari R, Sengteller M et al. Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families. Gut 2001; 48: 515–21.
13. Friedl W, Kruse R, Jungck M et al. Hamartomatöse Polyposis-Syndrome. Dtsch Arztebl 1999; 96: A2285–A2291.
14. Galiatsatos P, Foulkes WD. Familial adenomatous polyposis. Am J Gastroenterol 2006; 101: 385–98.
15. Giardiello FM, Allen JI, Axilbund JE et al. Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi Society Task Force on colorectal cancer. Gastroenterology 2014; 147: 502–26.
16. Half E, Bercovich D, Rozen P. Familial adenomatous polyposis. Orphanet J Rare Dis 2009; 12: 4–22.
17. Hes FJ, Nielsen M, Bik EC et al. Somatic APC mosaicism: An underestimated cause of polyposis coli. Gut 2008; 57: 71–6.
18. Jasperson KW, Patel SG, Ahnen DJ et al. APC-Associated Polyposis Conditions. GeneReviewsR [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2018. 1998 Dec 18 [updated 2017 Feb 2].
19. Jass JR. Colorectal polyposes: from phenotype to diagnosis. Pathol Res Pract 2008; 204: 431–47.
20. Kastrinosand F, Syngal S. Inherited Colorectal Cancer Syndromes. Cancer J 2011; 17 (6): 405–15.
21. Peterschulte G, Lickfeld T, Moslein G. Das Desmoid-Problem. Chirurg 2000; 71: 894–903.
22. Ripa R, Bisgaard ML, Bülow S, Nielsen FC. De novo mutations in familial adenomatous polyposis (FAP). Eur J Hum Gen 2002; 10: 631–63.
23. Sampson JR, Dolwani S, Jones S et al. Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. Lancet 2003; 362: 39–41.
24. Schulmann K, Pox C, Tannapfel A, Schmiegel W. The patient with multiple intestinal polyps. Best Pract Res Clin Gastroenterol 2007; 21: 409–26.
25. Snover DC, Jass JR, Fenoglio-Preiser C, Batts KP. Serrated polyps of the large intestine: a morphologic and molecular review of an evolving concept. Am J Clin Pathol 2005; 124: 380–91.
26. Stanford Medicine: Surgical Pathology Criteria: Familial Adenomatous Рolyposis. http://surgpathcriteria.stanford.edu/gitumors/familial-adenomatous-polyposis/differential-diagnosis....
27. Stoffel EM, Mangu PB, Gruber SB et al. Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines. J Clin Oncol 2015; 33 (2): 209–17.
28. 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; quiz 263.
29. Talseth-Palmer BA. The genetic basis of colonic adenomatous polyposis syndromes. Hered Cancer Clin Pract 2017; 15: 5. DOI: 10.1186/s13053-017-0065-x
30. Vogt S, Jones N, Christian D et al. Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. Gastroenterology 2009; 137: 1976–85.
2. Kit O.I., Vodolazhskii Iu.A., Gevorkian Iu.A. et al. Nasledstvennyi kolorektal'nyi rak: genetika i skrining. Ros. zhurn. gastroenterologii, gepatologii i koloproktologii. 2018; 28 (3): 18–25 (in Russian).
3. Kit O.I., Gevorkian Iu.A., Soldatkina N.V. et al. Semeinyi adenomatoz tolstoi kishki: sovremennoe sostoianie problemy. Therapeutic archive. 2018; 90 (2): 65–8 (in Russian).
4. Aretz S, Propping P, Noethen M. Indikationen zur molekulargenetischen Diagnostik bei erblichen Krankheiten. Dtsch Arztebl 2006; 103: A550–A558.
5. Aretz S. The Differential Diagnosis and Surveillance of Hereditary Gastrointestinal Polyposis Syndromes. Dtsch Arztebl Int 2010; 107 (10): 163–73.
6. Brosens LA, van Hattem WA, Jansen M et al. Gastrointestinal polyposis syndromes. Curr Mol Med 2007; 7: 29–46.
7. Calva D et al. Hamartomatous polyposis syndromes. Surg Clin North Am 2008; 88: 779–817.
8. Cao Y, Pieretti M, Marshall J et al. Challenge in the differentiation between attenuated familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer: case report with review of the literature. Am J Gastroenterol 2002; 97: 1822–7.
9. Chow E, Lipton L, Lynch E et al. Hyperplastic polyposis syndrome: phenotypic presentations and the role of MBD4 and MYH. Gastroenterology 2006; 131: 30–9.
10. Delnatte C, Sanlaville D, Mougenot JF et al. Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes. Am J Hum Genet 2006; 78: 1066–74.
11. Edelstein DL, Axilbund J, Baxter M et al. Rapid development of colorectal neoplasia in patients with Lynch syndrome. Clin Gastroenterol Hepatol 2011; 9: 340–3.
12. Friedl W, Caspari R, Sengteller M et al. Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families. Gut 2001; 48: 515–21.
13. Friedl W, Kruse R, Jungck M et al. Hamartomatöse Polyposis-Syndrome. Dtsch Arztebl 1999; 96: A2285–A2291.
14. Galiatsatos P, Foulkes WD. Familial adenomatous polyposis. Am J Gastroenterol 2006; 101: 385–98.
15. Giardiello FM, Allen JI, Axilbund JE et al. Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi Society Task Force on colorectal cancer. Gastroenterology 2014; 147: 502–26.
16. Half E, Bercovich D, Rozen P. Familial adenomatous polyposis. Orphanet J Rare Dis 2009; 12: 4–22.
17. Hes FJ, Nielsen M, Bik EC et al. Somatic APC mosaicism: An underestimated cause of polyposis coli. Gut 2008; 57: 71–6.
18. Jasperson KW, Patel SG, Ahnen DJ et al. APC-Associated Polyposis Conditions. GeneReviewsR [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2018. 1998 Dec 18 [updated 2017 Feb 2].
19. Jass JR. Colorectal polyposes: from phenotype to diagnosis. Pathol Res Pract 2008; 204: 431–47.
20. Kastrinosand F, Syngal S. Inherited Colorectal Cancer Syndromes. Cancer J 2011; 17 (6): 405–15.
21. Peterschulte G, Lickfeld T, Moslein G. Das Desmoid-Problem. Chirurg 2000; 71: 894–903.
22. Ripa R, Bisgaard ML, Bülow S, Nielsen FC. De novo mutations in familial adenomatous polyposis (FAP). Eur J Hum Gen 2002; 10: 631–63.
23. Sampson JR, Dolwani S, Jones S et al. Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. Lancet 2003; 362: 39–41.
24. Schulmann K, Pox C, Tannapfel A, Schmiegel W. The patient with multiple intestinal polyps. Best Pract Res Clin Gastroenterol 2007; 21: 409–26.
25. Snover DC, Jass JR, Fenoglio-Preiser C, Batts KP. Serrated polyps of the large intestine: a morphologic and molecular review of an evolving concept. Am J Clin Pathol 2005; 124: 380–91.
26. Stanford Medicine: Surgical Pathology Criteria: Familial Adenomatous Рolyposis. http://surgpathcriteria.stanford.edu/gitumors/familial-adenomatous-polyposis/differential-diagnosis....
27. Stoffel EM, Mangu PB, Gruber SB et al. Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines. J Clin Oncol 2015; 33 (2): 209–17.
28. 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; quiz 263.
29. Talseth-Palmer BA. The genetic basis of colonic adenomatous polyposis syndromes. Hered Cancer Clin Pract 2017; 15: 5. DOI: 10.1186/s13053-017-0065-x
30. Vogt S, Jones N, Christian D et al. Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. Gastroenterology 2009; 137: 1976–85.
[Efimova I.Iu., Timoshkina N.N., Soldatkina N.V. et al. Molekuliarnaia diagnostika germinal'nykh mutatsii v gene ARS. Sbornik trudov IX Vserossiiskoi nauchno-prakticheskoi konferentsii s mezhdunarodnym uchastiem "Molekuliarnaia diagnostika 2017'. Molekuliarnaia diagnostika. 2017; 1: 425–6 (in Russian).]
2. Кит О.И., Водолажский Ю.А., Геворкян Ю.А. и др. Наследственный колоректальный рак: генетика и скрининг. Рос. журн. гастроэнтерологии, гепатологии и колопроктологии. 2018; 28 (3): 18–25.
[Kit O.I., Vodolazhskii Iu.A., Gevorkian Iu.A. et al. Nasledstvennyi kolorektal'nyi rak: genetika i skrining. Ros. zhurn. gastroenterologii, gepatologii i koloproktologii. 2018; 28 (3): 18–25 (in Russian).]
3. Кит О.И., Геворкян Ю.А., Солдаткина Н.В. и др. Семейный аденоматоз толстой кишки: современное состояние проблемы. Терапевтический архив. 2018; 90 (2):
65–8.
[Kit O.I., Gevorkian Iu.A., Soldatkina N.V. et al. Semeinyi adenomatoz tolstoi kishki: sovremennoe sostoianie problemy. Therapeutic archive. 2018; 90 (2): 65–8 (in Russian).]
4. Aretz S, Propping P, Noethen M. Indikationen zur molekulargenetischen Diagnostik bei erblichen Krankheiten. Dtsch Arztebl 2006; 103: A550–A558.
5. Aretz S. The Differential Diagnosis and Surveillance of Hereditary Gastrointestinal Polyposis Syndromes. Dtsch Arztebl Int 2010; 107 (10): 163–73.
6. Brosens LA, van Hattem WA, Jansen M et al. Gastrointestinal polyposis syndromes. Curr Mol Med 2007; 7: 29–46.
7. Calva D et al. Hamartomatous polyposis syndromes. Surg Clin North Am 2008; 88: 779–817.
8. Cao Y, Pieretti M, Marshall J et al. Challenge in the differentiation between attenuated familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer: case report with review of the literature. Am J Gastroenterol 2002; 97: 1822–7.
9. Chow E, Lipton L, Lynch E et al. Hyperplastic polyposis syndrome: phenotypic presentations and the role of MBD4 and MYH. Gastroenterology 2006; 131: 30–9.
10. Delnatte C, Sanlaville D, Mougenot JF et al. Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes. Am J Hum Genet 2006; 78: 1066–74.
11. Edelstein DL, Axilbund J, Baxter M et al. Rapid development of colorectal neoplasia in patients with Lynch syndrome. Clin Gastroenterol Hepatol 2011; 9: 340–3.
12. Friedl W, Caspari R, Sengteller M et al. Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families. Gut 2001; 48: 515–21.
13. Friedl W, Kruse R, Jungck M et al. Hamartomatöse Polyposis-Syndrome. Dtsch Arztebl 1999; 96: A2285–A2291.
14. Galiatsatos P, Foulkes WD. Familial adenomatous polyposis. Am J Gastroenterol 2006; 101: 385–98.
15. Giardiello FM, Allen JI, Axilbund JE et al. Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi Society Task Force on colorectal cancer. Gastroenterology 2014; 147: 502–26.
16. Half E, Bercovich D, Rozen P. Familial adenomatous polyposis. Orphanet J Rare Dis 2009; 12: 4–22.
17. Hes FJ, Nielsen M, Bik EC et al. Somatic APC mosaicism: An underestimated cause of polyposis coli. Gut 2008; 57: 71–6.
18. Jasperson KW, Patel SG, Ahnen DJ et al. APC-Associated Polyposis Conditions. GeneReviewsR [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2018. 1998 Dec 18 [updated 2017 Feb 2].
19. Jass JR. Colorectal polyposes: from phenotype to diagnosis. Pathol Res Pract 2008; 204: 431–47.
20. Kastrinosand F, Syngal S. Inherited Colorectal Cancer Syndromes. Cancer J 2011; 17 (6): 405–15.
21. Peterschulte G, Lickfeld T, Moslein G. Das Desmoid-Problem. Chirurg 2000; 71: 894–903.
22. Ripa R, Bisgaard ML, Bülow S, Nielsen FC. De novo mutations in familial adenomatous polyposis (FAP). Eur J Hum Gen 2002; 10: 631–63.
23. Sampson JR, Dolwani S, Jones S et al. Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. Lancet 2003; 362: 39–41.
24. Schulmann K, Pox C, Tannapfel A, Schmiegel W. The patient with multiple intestinal polyps. Best Pract Res Clin Gastroenterol 2007; 21: 409–26.
25. Snover DC, Jass JR, Fenoglio-Preiser C, Batts KP. Serrated polyps of the large intestine: a morphologic and molecular review of an evolving concept. Am J Clin Pathol 2005; 124: 380–91.
26. Stanford Medicine: Surgical Pathology Criteria: Familial Adenomatous Рolyposis. http://surgpathcriteria.stanford.edu/gitumors/familial-adenomatous-polyposis/differential-diagnosis....
27. Stoffel EM, Mangu PB, Gruber SB et al. Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines. J Clin Oncol 2015; 33 (2): 209–17.
28. 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; quiz 263.
29. Talseth-Palmer BA. The genetic basis of colonic adenomatous polyposis syndromes. Hered Cancer Clin Pract 2017; 15: 5. DOI: 10.1186/s13053-017-0065-x
30. Vogt S, Jones N, Christian D et al. Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. Gastroenterology 2009; 137: 1976–85.
________________________________________________
2. Kit O.I., Vodolazhskii Iu.A., Gevorkian Iu.A. et al. Nasledstvennyi kolorektal'nyi rak: genetika i skrining. Ros. zhurn. gastroenterologii, gepatologii i koloproktologii. 2018; 28 (3): 18–25 (in Russian).
3. Kit O.I., Gevorkian Iu.A., Soldatkina N.V. et al. Semeinyi adenomatoz tolstoi kishki: sovremennoe sostoianie problemy. Therapeutic archive. 2018; 90 (2): 65–8 (in Russian).
4. Aretz S, Propping P, Noethen M. Indikationen zur molekulargenetischen Diagnostik bei erblichen Krankheiten. Dtsch Arztebl 2006; 103: A550–A558.
5. Aretz S. The Differential Diagnosis and Surveillance of Hereditary Gastrointestinal Polyposis Syndromes. Dtsch Arztebl Int 2010; 107 (10): 163–73.
6. Brosens LA, van Hattem WA, Jansen M et al. Gastrointestinal polyposis syndromes. Curr Mol Med 2007; 7: 29–46.
7. Calva D et al. Hamartomatous polyposis syndromes. Surg Clin North Am 2008; 88: 779–817.
8. Cao Y, Pieretti M, Marshall J et al. Challenge in the differentiation between attenuated familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer: case report with review of the literature. Am J Gastroenterol 2002; 97: 1822–7.
9. Chow E, Lipton L, Lynch E et al. Hyperplastic polyposis syndrome: phenotypic presentations and the role of MBD4 and MYH. Gastroenterology 2006; 131: 30–9.
10. Delnatte C, Sanlaville D, Mougenot JF et al. Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes. Am J Hum Genet 2006; 78: 1066–74.
11. Edelstein DL, Axilbund J, Baxter M et al. Rapid development of colorectal neoplasia in patients with Lynch syndrome. Clin Gastroenterol Hepatol 2011; 9: 340–3.
12. Friedl W, Caspari R, Sengteller M et al. Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families. Gut 2001; 48: 515–21.
13. Friedl W, Kruse R, Jungck M et al. Hamartomatöse Polyposis-Syndrome. Dtsch Arztebl 1999; 96: A2285–A2291.
14. Galiatsatos P, Foulkes WD. Familial adenomatous polyposis. Am J Gastroenterol 2006; 101: 385–98.
15. Giardiello FM, Allen JI, Axilbund JE et al. Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi Society Task Force on colorectal cancer. Gastroenterology 2014; 147: 502–26.
16. Half E, Bercovich D, Rozen P. Familial adenomatous polyposis. Orphanet J Rare Dis 2009; 12: 4–22.
17. Hes FJ, Nielsen M, Bik EC et al. Somatic APC mosaicism: An underestimated cause of polyposis coli. Gut 2008; 57: 71–6.
18. Jasperson KW, Patel SG, Ahnen DJ et al. APC-Associated Polyposis Conditions. GeneReviewsR [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2018. 1998 Dec 18 [updated 2017 Feb 2].
19. Jass JR. Colorectal polyposes: from phenotype to diagnosis. Pathol Res Pract 2008; 204: 431–47.
20. Kastrinosand F, Syngal S. Inherited Colorectal Cancer Syndromes. Cancer J 2011; 17 (6): 405–15.
21. Peterschulte G, Lickfeld T, Moslein G. Das Desmoid-Problem. Chirurg 2000; 71: 894–903.
22. Ripa R, Bisgaard ML, Bülow S, Nielsen FC. De novo mutations in familial adenomatous polyposis (FAP). Eur J Hum Gen 2002; 10: 631–63.
23. Sampson JR, Dolwani S, Jones S et al. Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. Lancet 2003; 362: 39–41.
24. Schulmann K, Pox C, Tannapfel A, Schmiegel W. The patient with multiple intestinal polyps. Best Pract Res Clin Gastroenterol 2007; 21: 409–26.
25. Snover DC, Jass JR, Fenoglio-Preiser C, Batts KP. Serrated polyps of the large intestine: a morphologic and molecular review of an evolving concept. Am J Clin Pathol 2005; 124: 380–91.
26. Stanford Medicine: Surgical Pathology Criteria: Familial Adenomatous Рolyposis. http://surgpathcriteria.stanford.edu/gitumors/familial-adenomatous-polyposis/differential-diagnosis....
27. Stoffel EM, Mangu PB, Gruber SB et al. Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines. J Clin Oncol 2015; 33 (2): 209–17.
28. 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; quiz 263.
29. Talseth-Palmer BA. The genetic basis of colonic adenomatous polyposis syndromes. Hered Cancer Clin Pract 2017; 15: 5. DOI: 10.1186/s13053-017-0065-x
30. Vogt S, Jones N, Christian D et al. Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. Gastroenterology 2009; 137: 1976–85.
Авторы
О.И.Кит, Ю.А.Геворкян, Н.В.Солдаткина, Д.А.Харагезов, И.Ю.Ефимова, А.Г.Милакин, Г.Ю.Егоров, А.В.Дашков
ФГБУ «Ростовский научно-исследовательский онкологический институт» Минздрава России, Ростов-на-Дону, Россия
Georgii Iu. Egorov, Andrei V. Dashkov
Rostov Research Institute of Oncology, Rostov-on-Don, Russia
ФГБУ «Ростовский научно-исследовательский онкологический институт» Минздрава России, Ростов-на-Дону, Россия
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Georgii Iu. Egorov, Andrei V. Dashkov
Rostov Research Institute of Oncology, Rostov-on-Don, Russia
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