Материалы доступны только для специалистов сферы здравоохранения. Авторизуйтесь или зарегистрируйтесь.
Течение и клинические проявления синдрома Пейтца–Егерса в российской популяции
Течение и клинические проявления синдрома Пейтца–Егерса в российской популяции
Савельева Т.А., Пономаренко А.А., Шелыгин Ю.А., Кузьминов А.М., Вышегородцев Д.В., Логинова А.Н., Пикунов Д.Ю., Гончарова Е.П., Ликутов А.А., Майновская О.А., Цуканов А.С. Течение и клинические проявления синдрома Пейтца–Егерса в российской популяции. Терапевтический архив. 2023;95(2):145–151. DOI: 10.26442/00403660.2023.02.202059
© ООО «КОНСИЛИУМ МЕДИКУМ», 2023 г.
DOI: 10.26442/00403660.2023.02.202059
© ООО «КОНСИЛИУМ МЕДИКУМ», 2023 г.
________________________________________________
DOI: 10.26442/00403660.2023.02.202059
Материалы доступны только для специалистов сферы здравоохранения. Авторизуйтесь или зарегистрируйтесь.
Аннотация
Обоснование. Синдром Пейтца–Егерса (СПЕ) – редкий наследственный синдром, характеризующийся ростом гамартомных полипов в желудочно-кишечном тракте, периоральной пигментацией и повышенным риском развития злокачественных новообразований. Синдром обусловлен патогенным вариантом в гене STK11.
Цель. Оценить клиническую картину и лечение российских пациентов с СПЕ.
Материалы и методы. Проведен ретроспективный анализ 30 пациентов из 25 семей с установленным диагнозом СПЕ, наблюдавшихся в ФГБУ «ГНЦК им. А.Н. Рыжих» с 2011 по 2021 г. Всем пациентам проводилось инструментальное исследование, включающее эзофагогастродуоденоскопию, колоноскопию, рентгенологическое исследование тонкой кишки/КТ-энтерографию, при отсутствии инвагинатов – видеокапсульную эндоскопию, а также ДНК-диагностику гена STK11. Все удаленные полипы подвергались гистологическому исследованию.
Результаты. Анализ клинической картины позволил установить следующие данные: первые жалобы у пациентов отмечались в детско-юношеском возрасте, при этом медиана возраста составила 11 [7; 19] (0,5–24) лет; патогенные варианты в гене STK11 выявлены в 26 (87%) наблюдениях, среди которых 10 описаны впервые; при первичном обследовании у всех 30 (100%) пациентов выявлялись полипы в тонкой кишке, в желудке – у 23/30 (77%) пациентов, в толстой кишке – у 21/30 (70%); с возрастом отмечалось увеличение количества полипов во всех отделах желудочно-кишечного тракта; до постановки диагноза операции выполнялись в экстренном порядке по поводу кишечной непроходимости, после постановки диагноза СПЕ при выявлении полипов в желудочно-кишечном тракте выполнялись эндоскопические полипэктомии; при невозможности эндоскопического удаления гамартомных полипов пациенты оперировались в плановом порядке; у 8/30 (27%) пациентов выявлены злокачественные заболевания. Медиана возраста выявления рака составила 52 [31; 52] (17–59) года.
Заключение. У российских пациентов с СПЕ имеются популяционные особенности в клинической картине течения заболевания, что диктует необходимость разработки собственных рекомендаций по мониторингу и лечению такого рода больных.
Ключевые слова: синдром Пейтца–Егерса, гамартомные полипы, ген STK11
Aim. To assess the clinical picture and treatment of Russian patients with PJS.
Materials and methods. A retrospective analysis of 30 patients from 25 families with an established diagnosis of PJS who were in the Ryzikh State Scientific Center for Coloproctology from 2011 to 2021 was carried out. All patients underwent instrumental examination, including esophagogastroduodenoscopy, colonoscopy, X-ray examination of the small intestine/CT-enterography, in the absence of invaginates – video capsule endoscopy, as well as molecular genetic examination for the presence of pathogenic variants in the STK11 gene. All removed polyps were subjected to the histological examination.
Results. The analysis of the clinical picture allowed us to establish the following data: the first complaints in patients were noted in childhood and adolescence, while the median age was 11 [7; 19] (0.5–24) years; pathogenic variants in the STK11 gene were identified in 26 (87%) cases, among which 10 were described for the first time; during the initial examination, polyps in the small intestine were detected in all 30 (100%) patients, in the stomach – in 23/30 (77%) patients, and in the colon – in 21/30 (70%); with an age, an increase in the number of polyps in all parts of the gastrointestinal tract was noted; before the diagnosis operations were performed urgently for intestinal obstruction; after the diagnosis of PJS, when polyps were detected in the gastrointestinal tract, endoscopic polypectomies were performed; if endoscopic removal of hamartomatous polyps was impossible, patients were operated as planned; malignant diseases of the predominantly reproductive system were detected in 8/30 (27%) patients. The median age of cancer detection was 52 [31; 52] (17–59) years.
Conclusion. Russian patients with PJS have population-specific features in the clinical picture of the course of the disease, which dictates the need to develop their own recommendations for monitoring and treatment of such patients.
Keywords: Peutz–Jeghers syndrome, hamartomatous polyps, gene STK11
Цель. Оценить клиническую картину и лечение российских пациентов с СПЕ.
Материалы и методы. Проведен ретроспективный анализ 30 пациентов из 25 семей с установленным диагнозом СПЕ, наблюдавшихся в ФГБУ «ГНЦК им. А.Н. Рыжих» с 2011 по 2021 г. Всем пациентам проводилось инструментальное исследование, включающее эзофагогастродуоденоскопию, колоноскопию, рентгенологическое исследование тонкой кишки/КТ-энтерографию, при отсутствии инвагинатов – видеокапсульную эндоскопию, а также ДНК-диагностику гена STK11. Все удаленные полипы подвергались гистологическому исследованию.
Результаты. Анализ клинической картины позволил установить следующие данные: первые жалобы у пациентов отмечались в детско-юношеском возрасте, при этом медиана возраста составила 11 [7; 19] (0,5–24) лет; патогенные варианты в гене STK11 выявлены в 26 (87%) наблюдениях, среди которых 10 описаны впервые; при первичном обследовании у всех 30 (100%) пациентов выявлялись полипы в тонкой кишке, в желудке – у 23/30 (77%) пациентов, в толстой кишке – у 21/30 (70%); с возрастом отмечалось увеличение количества полипов во всех отделах желудочно-кишечного тракта; до постановки диагноза операции выполнялись в экстренном порядке по поводу кишечной непроходимости, после постановки диагноза СПЕ при выявлении полипов в желудочно-кишечном тракте выполнялись эндоскопические полипэктомии; при невозможности эндоскопического удаления гамартомных полипов пациенты оперировались в плановом порядке; у 8/30 (27%) пациентов выявлены злокачественные заболевания. Медиана возраста выявления рака составила 52 [31; 52] (17–59) года.
Заключение. У российских пациентов с СПЕ имеются популяционные особенности в клинической картине течения заболевания, что диктует необходимость разработки собственных рекомендаций по мониторингу и лечению такого рода больных.
Ключевые слова: синдром Пейтца–Егерса, гамартомные полипы, ген STK11
________________________________________________
Aim. To assess the clinical picture and treatment of Russian patients with PJS.
Materials and methods. A retrospective analysis of 30 patients from 25 families with an established diagnosis of PJS who were in the Ryzikh State Scientific Center for Coloproctology from 2011 to 2021 was carried out. All patients underwent instrumental examination, including esophagogastroduodenoscopy, colonoscopy, X-ray examination of the small intestine/CT-enterography, in the absence of invaginates – video capsule endoscopy, as well as molecular genetic examination for the presence of pathogenic variants in the STK11 gene. All removed polyps were subjected to the histological examination.
Results. The analysis of the clinical picture allowed us to establish the following data: the first complaints in patients were noted in childhood and adolescence, while the median age was 11 [7; 19] (0.5–24) years; pathogenic variants in the STK11 gene were identified in 26 (87%) cases, among which 10 were described for the first time; during the initial examination, polyps in the small intestine were detected in all 30 (100%) patients, in the stomach – in 23/30 (77%) patients, and in the colon – in 21/30 (70%); with an age, an increase in the number of polyps in all parts of the gastrointestinal tract was noted; before the diagnosis operations were performed urgently for intestinal obstruction; after the diagnosis of PJS, when polyps were detected in the gastrointestinal tract, endoscopic polypectomies were performed; if endoscopic removal of hamartomatous polyps was impossible, patients were operated as planned; malignant diseases of the predominantly reproductive system were detected in 8/30 (27%) patients. The median age of cancer detection was 52 [31; 52] (17–59) years.
Conclusion. Russian patients with PJS have population-specific features in the clinical picture of the course of the disease, which dictates the need to develop their own recommendations for monitoring and treatment of such patients.
Keywords: Peutz–Jeghers syndrome, hamartomatous polyps, gene STK11
Полный текст
Список литературы
1. Giardiello FM, Trimbath JD. Peutz-Jeghers syndrome and management recommendations. Clin Gastroenterol Hepatol. 2006;4(4):408-15. DOI:10.1016/j.cgh.2005.11.005
2. Hemminki A. The molecular basis and clinical aspects of Peutz-Jeghers syndrome. Cell Mol Life Sci. 1999;55(5):735-50. DOI:10.1007/s000180050329
3. Jenne DЕ, Reimann H, Nezu J, et al. Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. Nat Genet. 1998;18(1):38-43. DOI:10.1038/ng0198-38
4. Meserve EE, Nucci MR. Peutz-Jeghers Syndrome: Pathobiology, Pathologic Manifestations, and Suggestions for Recommending Genetic Testing in Pathology Reports. Surg Pathol Clin. 2016;9(2):243-68. DOI:10.1016/j.path.2016.01.006
5. Beggs AD, Latchford AR, Vasen HF, et al. Peutz-Jeghers syndrome: a systematic review and recommendations for management. Gut. 2010;59(7):975-86. DOI:10.1136/gut.2009.198499
6. Шелыгин Ю.А., Поспехова Н.И., Шубин В.П., и др. Пилотное клинико-генетическое исследование российских пациентов с синдромом Пейтца–Егерса. Вопросы онкологии. 2016;62(1):112-6 [Shelygin YuA, Pospekhova NI, Shubin VP, et al. Pilot clinical and genetic study of Russian patients with Peutz–Jeghers syndrome. Oncology Issues. 2016;62(1):112-6 (in Russian)]
7. Kopacova M, Tacheci I, Rejchrt S, et al. Peutz-Jeghers syndrome: diagnostic and therapeutic approach. World J Gastroenterol. 2009;15(43):5397-408. DOI:10.3748/wjg.15.5397
8. Salloch H, Reinacher-Schick A, Schulmann K, et al. Truncating mutations in Peutz-Jeghers syndrome are associated with more polyps, surgical interventions and cancers. Int J Colorectal Dis. 2010;25(1):97-107. DOI:10.1007/s00384-009-0793-0
9. Van Lier MG, Mathus-Vliegen EM, Wagner A, et al. High cumulative risk of intussusception in patients with Peutz-Jeghers syndrome: time to update surveillance guidelines? Am J Gastroenterol. 2011;106(5):940-5. DOI:10.1038/ajg.2010.473
10. Hinds R, Philp C, Hyer W, Fell JM. Complications of childhood Peutz-Jeghers syndrome: implications for pediatric screening. J Pediatr Gastroenterol Nutr. 2004;39(2):219-20. DOI:10.1097/00005176-200408000-00027
11. Choi HS, Park YJ, Youk EG, et al. Clinical characteristics of Peutz-Jeghers syndrome in Korean polyposis patients. Int J Colorectal Dis. 2000;15(1):35-8. DOI:10.1007/s003840050005
12. Spigelman AD, Thomson JP, Phillips RK. Towards decreasing the relaparotomy rate in the Peutz-Jeghers syndrome: the role of peroperative small bowel endoscopy. Br J Surg. 1990;77(3):301-2. DOI:10.1002/bjs.1800770320
13. McGarrity TJ, Amos C. Peutz-Jeghers syndrome: clinicopathology and molecular alterations. Cell Mol Life Sci. 2006;63(18):2135-44. DOI:10.1007/s00018-006-6080-0
14. Giardiello FM, Brensinger JD, Tersmette AC, et al. Very high risk of cancer in familial Peutz-Jeghers syndrome. Gastroenterology. 2000;119(6):1447-53. DOI:10.1053/gast.2000.20228
15. Hearle N, Schumacher V, Menko FH, et al. Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. Clin Cancer Res. 2006;12(10):3209-15. DOI:10.1158/1078-0432.CCR-06-0083
16. Resta N, Pierannunzio D, Lenato GM, et al. Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: results of an Italian multicenter study. Dig Liver Dis. 2013;45(7):606-11. DOI:10.1016/j.dld.2012.12.018
17. Van Lier MG, Westerman AM, Wagner A, et al. High cancer risk and increased mortality in patients with Peutz-Jeghers syndrome. Gut. 2011;60(2):141-7. DOI:10.1136/gut.2010.223750
18. Chen HY, Jin XW, Li BR, et al. Cancer risk in patients with Peutz-Jeghers syndrome: A retrospective cohort study of 336 cases. Tumour Biol. 2017;39(6):1010428317705131. DOI:10.1177/1010428317705131
19. Шелыгин Ю.А., Имянитов Е.Н., Куцев С.И., и др. Клинические рекомендации. Аденоматозный полипозный синдром. Колопроктология. 2022;21(2):10-24 [Shelygin YuA, Imyanitov EN, Kutsev SI, et al. Clinical recommendations. Adenomatous polyposis syndrome. Coloproctology. 2022;21(2):10-24 (in Russian)]. DOI:10.33878/2073-7556-2022-21-2-10-24
20. Wagner A, Aretz S, Auranen A, et al. The Management of Peutz-Jeghers Syndrome: European Hereditary Tumour Group (EHTG) Guideline. J Clin Med. 2021;10(3):473. DOI:10.3390/jcm10030473
21. Цуканов А.С., Шубин В.П., Поспехова Н.И., и др. Наследственные раки желудочно-кишечного тракта. Практическая онкология. 2014;15(3):126-33 [Tsukanov AS, Shubin VP, Pospekhova NI, et al. Hereditary cancers of the gastrointestinal tract. Practical Oncology. 2014;15(3):126-33 (in Russian)].
22. Jelsig AM, Qvist N, Sunde L, et al. Disease pattern in Danish patients with Peutz-Jeghers syndrome. Int J Colorectal Dis. 2016;31(5):997-1004. DOI:10.1007/s00384-016-2560-3
23. Vidal I, Podevin G, Piloquet H, et al. Follow-up and surgical management of Peutz-Jeghers syndrome in children. J Pediatr Gastroenterol Nutr. 2009;48(4):419-25. DOI:10.1097/mpg.0b013e318180af62
24. Chiang JM, Chen TC. Clinical manifestations and STK11 germline mutations in Taiwanese patients with Peutz-Jeghers syndrome. Asian J Surg. 2018;41(5):480-5. DOI:10.1016/j.asjsur.2017.08.002
25. Янова Т.И., Бодунова Н.А., Хатьков И.Е., и др. Генотип-фенотипические характеристики при синдроме Пейтца–Егерса. Колопроктология. 2022;21(2):72-80 [Yanova TI, Bodunova NA, Khatkov IE, et al. Genotype-phenotypic characteristics in Peitz-Jaegers syndrome. Coloproctology. 2022;21(2):72-80 (in Russian)].
DOI:10.33878/2073-7556-2022-21-2-72-80
26. Oncel M, Remzi FH, Church JM, et al. Benefits of 'clean sweep' in Peutz-Jeghers patients. Colorectal Dis. 2004;6(5):332-5. DOI:10.1111/j.1463-1318.2004.00623.x
27. Bosman FT. The hamartoma-adenoma-carcinoma sequence. J Pathol. 1999;188(1):1-2. DOI:10.1002/(SICI)1096-9896(199905)188:1<1::AID-PATH327>3.0.CO;2-J
28. Gao H, van Lier MG, Poley JW, et al. Endoscopic therapy of small-bowel polyps by double-balloon enteroscopy in patients with Peutz-Jeghers syndrome. Gastrointest Endosc. 2010;71(4):768-73. DOI:10.1016/j.gie.2009.11.005
29. Latchford AR, Phillips RK. Gastrointestinal polyps and cancer in Peutz-Jeghers syndrome: clinical aspects. Fam Cancer. 2011;10(3):455-61. DOI:10.1007/s10689-011-9442-1
30. Савельева Т.А., Пикунов Д.Ю., Кузьминов А.М., Цуканов А.С. Синдром Пейтца–Егерса: что стало известно за 125 лет изучения? Колопроктология. 2021;20(2):85-96 [Savelyeva TA, Pikunov DYu, Kuzminov AM, Tsukanov AS. Peutz-Jeghers syndrome: what has been known for 125 years of research? Coloproctology. 2021;20(2):85-96 (in Russian)]. DOI:10.33878/2073-7556-2021-20-2-85-96
31. Tomas C, Soyer P, Dohan A, et al. Update on imaging of Peutz-Jeghers syndrome. World J Gastroenterol. 2014;20(31):10864-75. DOI:10.3748/wjg.v20.i31.10864
2. Hemminki A. The molecular basis and clinical aspects of Peutz-Jeghers syndrome. Cell Mol Life Sci. 1999;55(5):735-50. DOI:10.1007/s000180050329
3. Jenne DЕ, Reimann H, Nezu J, et al. Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. Nat Genet. 1998;18(1):38-43. DOI:10.1038/ng0198-38
4. Meserve EE, Nucci MR. Peutz-Jeghers Syndrome: Pathobiology, Pathologic Manifestations, and Suggestions for Recommending Genetic Testing in Pathology Reports. Surg Pathol Clin. 2016;9(2):243-68. DOI:10.1016/j.path.2016.01.006
5. Beggs AD, Latchford AR, Vasen HF, et al. Peutz-Jeghers syndrome: a systematic review and recommendations for management. Gut. 2010;59(7):975-86. DOI:10.1136/gut.2009.198499
6. Shelygin YuA, Pospekhova NI, Shubin VP, et al. Pilot clinical and genetic study of Russian patients with Peutz–Jeghers syndrome. Oncology Issues. 2016;62(1):112-6 (in Russian)
7. Kopacova M, Tacheci I, Rejchrt S, et al. Peutz-Jeghers syndrome: diagnostic and therapeutic approach. World J Gastroenterol. 2009;15(43):5397-408. DOI:10.3748/wjg.15.5397
8. Salloch H, Reinacher-Schick A, Schulmann K, et al. Truncating mutations in Peutz-Jeghers syndrome are associated with more polyps, surgical interventions and cancers. Int J Colorectal Dis. 2010;25(1):97-107. DOI:10.1007/s00384-009-0793-0
9. Van Lier MG, Mathus-Vliegen EM, Wagner A, et al. High cumulative risk of intussusception in patients with Peutz-Jeghers syndrome: time to update surveillance guidelines? Am J Gastroenterol. 2011;106(5):940-5. DOI:10.1038/ajg.2010.473
10. Hinds R, Philp C, Hyer W, Fell JM. Complications of childhood Peutz-Jeghers syndrome: implications for pediatric screening. J Pediatr Gastroenterol Nutr. 2004;39(2):219-20. DOI:10.1097/00005176-200408000-00027
11. Choi HS, Park YJ, Youk EG, et al. Clinical characteristics of Peutz-Jeghers syndrome in Korean polyposis patients. Int J Colorectal Dis. 2000;15(1):35-8. DOI:10.1007/s003840050005
12. Spigelman AD, Thomson JP, Phillips RK. Towards decreasing the relaparotomy rate in the Peutz-Jeghers syndrome: the role of peroperative small bowel endoscopy. Br J Surg. 1990;77(3):301-2. DOI:10.1002/bjs.1800770320
13. McGarrity TJ, Amos C. Peutz-Jeghers syndrome: clinicopathology and molecular alterations. Cell Mol Life Sci. 2006;63(18):2135-44. DOI:10.1007/s00018-006-6080-0
14. Giardiello FM, Brensinger JD, Tersmette AC, et al. Very high risk of cancer in familial Peutz-Jeghers syndrome. Gastroenterology. 2000;119(6):1447-53. DOI:10.1053/gast.2000.20228
15. Hearle N, Schumacher V, Menko FH, et al. Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. Clin Cancer Res. 2006;12(10):3209-15. DOI:10.1158/1078-0432.CCR-06-0083
16. Resta N, Pierannunzio D, Lenato GM, et al. Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: results of an Italian multicenter study. Dig Liver Dis. 2013;45(7):606-11. DOI:10.1016/j.dld.2012.12.018
17. Van Lier MG, Westerman AM, Wagner A, et al. High cancer risk and increased mortality in patients with Peutz-Jeghers syndrome. Gut. 2011;60(2):141-7. DOI:10.1136/gut.2010.223750
18. Chen HY, Jin XW, Li BR, et al. Cancer risk in patients with Peutz-Jeghers syndrome: A retrospective cohort study of 336 cases. Tumour Biol. 2017;39(6):1010428317705131. DOI:10.1177/1010428317705131
19. Shelygin YuA, Imyanitov EN, Kutsev SI, et al. Clinical recommendations. Adenomatous polyposis syndrome. Coloproctology. 2022;21(2):10-24 (in Russian).
DOI:10.33878/2073-7556-2022-21-2-10-24
20. Wagner A, Aretz S, Auranen A, et al. The Management of Peutz-Jeghers Syndrome: European Hereditary Tumour Group (EHTG) Guideline. J Clin Med. 2021;10(3):473. DOI:10.3390/jcm10030473
21. Tsukanov AS, Shubin VP, Pospekhova NI, et al. Hereditary cancers of the gastrointestinal tract. Practical Oncology. 2014;15(3):126-33 (in Russian).
22. Jelsig AM, Qvist N, Sunde L, et al. Disease pattern in Danish patients with Peutz-Jeghers syndrome. Int J Colorectal Dis. 2016;31(5):997-1004. DOI:10.1007/s00384-016-2560-3
23. Vidal I, Podevin G, Piloquet H, et al. Follow-up and surgical management of Peutz-Jeghers syndrome in children. J Pediatr Gastroenterol Nutr. 2009;48(4):419-25. DOI:10.1097/mpg.0b013e318180af62
24. Chiang JM, Chen TC. Clinical manifestations and STK11 germline mutations in Taiwanese patients with Peutz-Jeghers syndrome. Asian J Surg. 2018;41(5):480-5. DOI:10.1016/j.asjsur.2017.08.002
25. Yanova TI, Bodunova NA, Khatkov IE, et al. Genotype-phenotypic characteristics in Peitz-Jaegers syndrome. Coloproctology. 2022;21(2):72-80 (in Russian).
DOI:10.33878/2073-7556-2022-21-2-72-80
26. Oncel M, Remzi FH, Church JM, et al. Benefits of 'clean sweep' in Peutz-Jeghers patients. Colorectal Dis. 2004;6(5):332-5. DOI:10.1111/j.1463-1318.2004.00623.x
27. Bosman FT. The hamartoma-adenoma-carcinoma sequence. J Pathol. 1999;188(1):1-2. DOI:10.1002/(SICI)1096-9896(199905)188:1<1::AID-PATH327>3.0.CO;2-J
28. Gao H, van Lier MG, Poley JW, et al. Endoscopic therapy of small-bowel polyps by double-balloon enteroscopy in patients with Peutz-Jeghers syndrome. Gastrointest Endosc. 2010;71(4):768-73. DOI:10.1016/j.gie.2009.11.005
29. Latchford AR, Phillips RK. Gastrointestinal polyps and cancer in Peutz-Jeghers syndrome: clinical aspects. Fam Cancer. 2011;10(3):455-61. DOI:10.1007/s10689-011-9442-1
30. Savelyeva TA, Pikunov DYu, Kuzminov AM, Tsukanov AS. Peutz-Jeghers syndrome: what has been known for 125 years of research? Coloproctology. 2021;20(2):85-96 (in Russian). DOI:10.33878/2073-7556-2021-20-2-85-96
31. Tomas C, Soyer P, Dohan A, et al. Update on imaging of Peutz-Jeghers syndrome. World J Gastroenterol. 2014;20(31):10864-75. DOI:10.3748/wjg.v20.i31.10864
2. Hemminki A. The molecular basis and clinical aspects of Peutz-Jeghers syndrome. Cell Mol Life Sci. 1999;55(5):735-50. DOI:10.1007/s000180050329
3. Jenne DЕ, Reimann H, Nezu J, et al. Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. Nat Genet. 1998;18(1):38-43. DOI:10.1038/ng0198-38
4. Meserve EE, Nucci MR. Peutz-Jeghers Syndrome: Pathobiology, Pathologic Manifestations, and Suggestions for Recommending Genetic Testing in Pathology Reports. Surg Pathol Clin. 2016;9(2):243-68. DOI:10.1016/j.path.2016.01.006
5. Beggs AD, Latchford AR, Vasen HF, et al. Peutz-Jeghers syndrome: a systematic review and recommendations for management. Gut. 2010;59(7):975-86. DOI:10.1136/gut.2009.198499
6. Шелыгин Ю.А., Поспехова Н.И., Шубин В.П., и др. Пилотное клинико-генетическое исследование российских пациентов с синдромом Пейтца–Егерса. Вопросы онкологии. 2016;62(1):112-6 [Shelygin YuA, Pospekhova NI, Shubin VP, et al. Pilot clinical and genetic study of Russian patients with Peutz–Jeghers syndrome. Oncology Issues. 2016;62(1):112-6 (in Russian)]
7. Kopacova M, Tacheci I, Rejchrt S, et al. Peutz-Jeghers syndrome: diagnostic and therapeutic approach. World J Gastroenterol. 2009;15(43):5397-408. DOI:10.3748/wjg.15.5397
8. Salloch H, Reinacher-Schick A, Schulmann K, et al. Truncating mutations in Peutz-Jeghers syndrome are associated with more polyps, surgical interventions and cancers. Int J Colorectal Dis. 2010;25(1):97-107. DOI:10.1007/s00384-009-0793-0
9. Van Lier MG, Mathus-Vliegen EM, Wagner A, et al. High cumulative risk of intussusception in patients with Peutz-Jeghers syndrome: time to update surveillance guidelines? Am J Gastroenterol. 2011;106(5):940-5. DOI:10.1038/ajg.2010.473
10. Hinds R, Philp C, Hyer W, Fell JM. Complications of childhood Peutz-Jeghers syndrome: implications for pediatric screening. J Pediatr Gastroenterol Nutr. 2004;39(2):219-20. DOI:10.1097/00005176-200408000-00027
11. Choi HS, Park YJ, Youk EG, et al. Clinical characteristics of Peutz-Jeghers syndrome in Korean polyposis patients. Int J Colorectal Dis. 2000;15(1):35-8. DOI:10.1007/s003840050005
12. Spigelman AD, Thomson JP, Phillips RK. Towards decreasing the relaparotomy rate in the Peutz-Jeghers syndrome: the role of peroperative small bowel endoscopy. Br J Surg. 1990;77(3):301-2. DOI:10.1002/bjs.1800770320
13. McGarrity TJ, Amos C. Peutz-Jeghers syndrome: clinicopathology and molecular alterations. Cell Mol Life Sci. 2006;63(18):2135-44. DOI:10.1007/s00018-006-6080-0
14. Giardiello FM, Brensinger JD, Tersmette AC, et al. Very high risk of cancer in familial Peutz-Jeghers syndrome. Gastroenterology. 2000;119(6):1447-53. DOI:10.1053/gast.2000.20228
15. Hearle N, Schumacher V, Menko FH, et al. Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. Clin Cancer Res. 2006;12(10):3209-15. DOI:10.1158/1078-0432.CCR-06-0083
16. Resta N, Pierannunzio D, Lenato GM, et al. Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: results of an Italian multicenter study. Dig Liver Dis. 2013;45(7):606-11. DOI:10.1016/j.dld.2012.12.018
17. Van Lier MG, Westerman AM, Wagner A, et al. High cancer risk and increased mortality in patients with Peutz-Jeghers syndrome. Gut. 2011;60(2):141-7. DOI:10.1136/gut.2010.223750
18. Chen HY, Jin XW, Li BR, et al. Cancer risk in patients with Peutz-Jeghers syndrome: A retrospective cohort study of 336 cases. Tumour Biol. 2017;39(6):1010428317705131. DOI:10.1177/1010428317705131
19. Шелыгин Ю.А., Имянитов Е.Н., Куцев С.И., и др. Клинические рекомендации. Аденоматозный полипозный синдром. Колопроктология. 2022;21(2):10-24 [Shelygin YuA, Imyanitov EN, Kutsev SI, et al. Clinical recommendations. Adenomatous polyposis syndrome. Coloproctology. 2022;21(2):10-24 (in Russian)]. DOI:10.33878/2073-7556-2022-21-2-10-24
20. Wagner A, Aretz S, Auranen A, et al. The Management of Peutz-Jeghers Syndrome: European Hereditary Tumour Group (EHTG) Guideline. J Clin Med. 2021;10(3):473. DOI:10.3390/jcm10030473
21. Цуканов А.С., Шубин В.П., Поспехова Н.И., и др. Наследственные раки желудочно-кишечного тракта. Практическая онкология. 2014;15(3):126-33 [Tsukanov AS, Shubin VP, Pospekhova NI, et al. Hereditary cancers of the gastrointestinal tract. Practical Oncology. 2014;15(3):126-33 (in Russian)].
22. Jelsig AM, Qvist N, Sunde L, et al. Disease pattern in Danish patients with Peutz-Jeghers syndrome. Int J Colorectal Dis. 2016;31(5):997-1004. DOI:10.1007/s00384-016-2560-3
23. Vidal I, Podevin G, Piloquet H, et al. Follow-up and surgical management of Peutz-Jeghers syndrome in children. J Pediatr Gastroenterol Nutr. 2009;48(4):419-25. DOI:10.1097/mpg.0b013e318180af62
24. Chiang JM, Chen TC. Clinical manifestations and STK11 germline mutations in Taiwanese patients with Peutz-Jeghers syndrome. Asian J Surg. 2018;41(5):480-5. DOI:10.1016/j.asjsur.2017.08.002
25. Янова Т.И., Бодунова Н.А., Хатьков И.Е., и др. Генотип-фенотипические характеристики при синдроме Пейтца–Егерса. Колопроктология. 2022;21(2):72-80 [Yanova TI, Bodunova NA, Khatkov IE, et al. Genotype-phenotypic characteristics in Peitz-Jaegers syndrome. Coloproctology. 2022;21(2):72-80 (in Russian)].
DOI:10.33878/2073-7556-2022-21-2-72-80
26. Oncel M, Remzi FH, Church JM, et al. Benefits of 'clean sweep' in Peutz-Jeghers patients. Colorectal Dis. 2004;6(5):332-5. DOI:10.1111/j.1463-1318.2004.00623.x
27. Bosman FT. The hamartoma-adenoma-carcinoma sequence. J Pathol. 1999;188(1):1-2. DOI:10.1002/(SICI)1096-9896(199905)188:1<1::AID-PATH327>3.0.CO;2-J
28. Gao H, van Lier MG, Poley JW, et al. Endoscopic therapy of small-bowel polyps by double-balloon enteroscopy in patients with Peutz-Jeghers syndrome. Gastrointest Endosc. 2010;71(4):768-73. DOI:10.1016/j.gie.2009.11.005
29. Latchford AR, Phillips RK. Gastrointestinal polyps and cancer in Peutz-Jeghers syndrome: clinical aspects. Fam Cancer. 2011;10(3):455-61. DOI:10.1007/s10689-011-9442-1
30. Савельева Т.А., Пикунов Д.Ю., Кузьминов А.М., Цуканов А.С. Синдром Пейтца–Егерса: что стало известно за 125 лет изучения? Колопроктология. 2021;20(2):85-96 [Savelyeva TA, Pikunov DYu, Kuzminov AM, Tsukanov AS. Peutz-Jeghers syndrome: what has been known for 125 years of research? Coloproctology. 2021;20(2):85-96 (in Russian)]. DOI:10.33878/2073-7556-2021-20-2-85-96
31. Tomas C, Soyer P, Dohan A, et al. Update on imaging of Peutz-Jeghers syndrome. World J Gastroenterol. 2014;20(31):10864-75. DOI:10.3748/wjg.v20.i31.10864
________________________________________________
2. Hemminki A. The molecular basis and clinical aspects of Peutz-Jeghers syndrome. Cell Mol Life Sci. 1999;55(5):735-50. DOI:10.1007/s000180050329
3. Jenne DЕ, Reimann H, Nezu J, et al. Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. Nat Genet. 1998;18(1):38-43. DOI:10.1038/ng0198-38
4. Meserve EE, Nucci MR. Peutz-Jeghers Syndrome: Pathobiology, Pathologic Manifestations, and Suggestions for Recommending Genetic Testing in Pathology Reports. Surg Pathol Clin. 2016;9(2):243-68. DOI:10.1016/j.path.2016.01.006
5. Beggs AD, Latchford AR, Vasen HF, et al. Peutz-Jeghers syndrome: a systematic review and recommendations for management. Gut. 2010;59(7):975-86. DOI:10.1136/gut.2009.198499
6. Shelygin YuA, Pospekhova NI, Shubin VP, et al. Pilot clinical and genetic study of Russian patients with Peutz–Jeghers syndrome. Oncology Issues. 2016;62(1):112-6 (in Russian)
7. Kopacova M, Tacheci I, Rejchrt S, et al. Peutz-Jeghers syndrome: diagnostic and therapeutic approach. World J Gastroenterol. 2009;15(43):5397-408. DOI:10.3748/wjg.15.5397
8. Salloch H, Reinacher-Schick A, Schulmann K, et al. Truncating mutations in Peutz-Jeghers syndrome are associated with more polyps, surgical interventions and cancers. Int J Colorectal Dis. 2010;25(1):97-107. DOI:10.1007/s00384-009-0793-0
9. Van Lier MG, Mathus-Vliegen EM, Wagner A, et al. High cumulative risk of intussusception in patients with Peutz-Jeghers syndrome: time to update surveillance guidelines? Am J Gastroenterol. 2011;106(5):940-5. DOI:10.1038/ajg.2010.473
10. Hinds R, Philp C, Hyer W, Fell JM. Complications of childhood Peutz-Jeghers syndrome: implications for pediatric screening. J Pediatr Gastroenterol Nutr. 2004;39(2):219-20. DOI:10.1097/00005176-200408000-00027
11. Choi HS, Park YJ, Youk EG, et al. Clinical characteristics of Peutz-Jeghers syndrome in Korean polyposis patients. Int J Colorectal Dis. 2000;15(1):35-8. DOI:10.1007/s003840050005
12. Spigelman AD, Thomson JP, Phillips RK. Towards decreasing the relaparotomy rate in the Peutz-Jeghers syndrome: the role of peroperative small bowel endoscopy. Br J Surg. 1990;77(3):301-2. DOI:10.1002/bjs.1800770320
13. McGarrity TJ, Amos C. Peutz-Jeghers syndrome: clinicopathology and molecular alterations. Cell Mol Life Sci. 2006;63(18):2135-44. DOI:10.1007/s00018-006-6080-0
14. Giardiello FM, Brensinger JD, Tersmette AC, et al. Very high risk of cancer in familial Peutz-Jeghers syndrome. Gastroenterology. 2000;119(6):1447-53. DOI:10.1053/gast.2000.20228
15. Hearle N, Schumacher V, Menko FH, et al. Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. Clin Cancer Res. 2006;12(10):3209-15. DOI:10.1158/1078-0432.CCR-06-0083
16. Resta N, Pierannunzio D, Lenato GM, et al. Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: results of an Italian multicenter study. Dig Liver Dis. 2013;45(7):606-11. DOI:10.1016/j.dld.2012.12.018
17. Van Lier MG, Westerman AM, Wagner A, et al. High cancer risk and increased mortality in patients with Peutz-Jeghers syndrome. Gut. 2011;60(2):141-7. DOI:10.1136/gut.2010.223750
18. Chen HY, Jin XW, Li BR, et al. Cancer risk in patients with Peutz-Jeghers syndrome: A retrospective cohort study of 336 cases. Tumour Biol. 2017;39(6):1010428317705131. DOI:10.1177/1010428317705131
19. Shelygin YuA, Imyanitov EN, Kutsev SI, et al. Clinical recommendations. Adenomatous polyposis syndrome. Coloproctology. 2022;21(2):10-24 (in Russian).
DOI:10.33878/2073-7556-2022-21-2-10-24
20. Wagner A, Aretz S, Auranen A, et al. The Management of Peutz-Jeghers Syndrome: European Hereditary Tumour Group (EHTG) Guideline. J Clin Med. 2021;10(3):473. DOI:10.3390/jcm10030473
21. Tsukanov AS, Shubin VP, Pospekhova NI, et al. Hereditary cancers of the gastrointestinal tract. Practical Oncology. 2014;15(3):126-33 (in Russian).
22. Jelsig AM, Qvist N, Sunde L, et al. Disease pattern in Danish patients with Peutz-Jeghers syndrome. Int J Colorectal Dis. 2016;31(5):997-1004. DOI:10.1007/s00384-016-2560-3
23. Vidal I, Podevin G, Piloquet H, et al. Follow-up and surgical management of Peutz-Jeghers syndrome in children. J Pediatr Gastroenterol Nutr. 2009;48(4):419-25. DOI:10.1097/mpg.0b013e318180af62
24. Chiang JM, Chen TC. Clinical manifestations and STK11 germline mutations in Taiwanese patients with Peutz-Jeghers syndrome. Asian J Surg. 2018;41(5):480-5. DOI:10.1016/j.asjsur.2017.08.002
25. Yanova TI, Bodunova NA, Khatkov IE, et al. Genotype-phenotypic characteristics in Peitz-Jaegers syndrome. Coloproctology. 2022;21(2):72-80 (in Russian).
DOI:10.33878/2073-7556-2022-21-2-72-80
26. Oncel M, Remzi FH, Church JM, et al. Benefits of 'clean sweep' in Peutz-Jeghers patients. Colorectal Dis. 2004;6(5):332-5. DOI:10.1111/j.1463-1318.2004.00623.x
27. Bosman FT. The hamartoma-adenoma-carcinoma sequence. J Pathol. 1999;188(1):1-2. DOI:10.1002/(SICI)1096-9896(199905)188:1<1::AID-PATH327>3.0.CO;2-J
28. Gao H, van Lier MG, Poley JW, et al. Endoscopic therapy of small-bowel polyps by double-balloon enteroscopy in patients with Peutz-Jeghers syndrome. Gastrointest Endosc. 2010;71(4):768-73. DOI:10.1016/j.gie.2009.11.005
29. Latchford AR, Phillips RK. Gastrointestinal polyps and cancer in Peutz-Jeghers syndrome: clinical aspects. Fam Cancer. 2011;10(3):455-61. DOI:10.1007/s10689-011-9442-1
30. Savelyeva TA, Pikunov DYu, Kuzminov AM, Tsukanov AS. Peutz-Jeghers syndrome: what has been known for 125 years of research? Coloproctology. 2021;20(2):85-96 (in Russian). DOI:10.33878/2073-7556-2021-20-2-85-96
31. Tomas C, Soyer P, Dohan A, et al. Update on imaging of Peutz-Jeghers syndrome. World J Gastroenterol. 2014;20(31):10864-75. DOI:10.3748/wjg.v20.i31.10864
Авторы
Т.А. Савельева*, А.А. Пономаренко, Ю.А. Шелыгин, А.М. Кузьминов, Д.В. Вышегородцев, А.Н. Логинова, Д.Ю. Пикунов, Е.П. Гончарова, А.А. Ликутов, О.А. Майновская, А.С. Цуканов
ФГБУ «Государственный научный центр колопроктологии им. А.Н. Рыжих» Минздрава России, Москва, Россия
*savelyeva_ta@gnck.ru
Ryzikh State Scientific Center for Coloproctology, Moscow, Russia
*savelyeva_ta@gnck.ru
ФГБУ «Государственный научный центр колопроктологии им. А.Н. Рыжих» Минздрава России, Москва, Россия
*savelyeva_ta@gnck.ru
________________________________________________
Ryzikh State Scientific Center for Coloproctology, Moscow, Russia
*savelyeva_ta@gnck.ru
Цель портала OmniDoctor – предоставление профессиональной информации врачам, провизорам и фармацевтам.