vspВопросы современной педиатрииCurrent Pediatrics1682-55271682-5535Издательство «ПедиатрЪ»10.15690/vsp.v22i4.2614vsp-3271Research ArticleОРИГИНАЛЬНАЯ СТАТЬЯORIGINAL ARTICLESРоль генетического тестирования и комплексного эндоскопического обследования в дифференциальной диагностике наследственных полипозов у пациентов детского и юношеского возраста: десятилетний опыт клиникиRole of Genetic Testing and Complex Endoscopic Examination in Differential Diagnosis of Hereditary Polyposes in Pediatric and Adolescent Patients: 10 Years Clinical Experiencehttps://orcid.org/0000-0001-5911-553XБелышеваТ. С.BelyshevaTatiana S.

Белышева Татьяна Сергеевна - доктор медицинских наук, ведущий научный сотрудник научно-консультативного отделения.

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klinderma@bk.ruhttps://orcid.org/0000-0002-2642-4202НаседкинаТ. В.NasedkinaTatiana V.

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Moscow

https://orcid.org/0000-0002-1469-2365ВалиевТ. Т.ValievTimur T.

Москва

Moscow

https://orcid.org/0000-0002-5836-0338ШараповаЕ. В.SharapovaElena V.

Москва

Moscow

https://orcid.org/0000-0002-9705-1001СеменоваВ. В.SemenovaVera V.

Москва

Moscow

https://orcid.org/0000-0002-0442-5810КозловаВ. М.KozlovaValentina M.

Москва

Moscow

https://orcid.org/0000-0002-9502-072XМихайловаС. Н.MikhaylovaSvetlana N.

Москва

Moscow

КлецкаяИ. С.KletskayaIrina S.

Москва

Moscow

https://orcid.org/0009-0001-1849-9239БутузовА. В.ButuzovAlexey V.

Москва

Moscow

https://orcid.org/0000-0002-4066-179XВишневскаяЯ. В.VishnevskajaYana V.

Москва

Moscow

https://orcid.org/0000-0001-6262-7763ЛозоваяВ. В.LozovayaValeria V.

Москва

Moscow

https://orcid.org/0000-0001-6179-1115ГусароваО. А.GusarovaOlga A.

Москва

Moscow

https://orcid.org/0000-0001-5863-5197ТуманянА. О.TumanyanArmen O.

Москва

Moscow

https://orcid.org/0000-0003-0829-7809МалиховаО. А.MalichovaOlga A.

Москва

Moscow

https://orcid.org/0000-0001-6131-1783ВарфоломееваС. Р.VarfolomeevaSvetlana R.

Москва

Moscow

НМИЦ онкологии им. Н.Н. БлохинаРоссияNational Medical Research Center of Oncology named after N.N. BlokhinRussian FederationИнститут молекулярной биологии им. В.А. Энгельгардта РАНРоссияEngelhardt Institute of Molecular Biology, RASRussian FederationНМИЦ онкологии им. Н.Н. Блохина; Институт молекулярной биологии им. В.А. Энгельгардта РАНРоссияNational Medical Research Center of Oncology named after N.N. Blokhin; Engelhardt Institute of Molecular Biology, RASRussian FederationРДКБ ФГАОУ ВО РНИМУ им. Н.И. ПироговаРоссияRussian Children’s Clinical Hospital, Pirogov Russian National Research Medical UniversityRussian FederationНМИЦ онкологии им. Н.Н. Блохина; РМАНПОРоссияNational Medical Research Center of Oncology named after N.N. Blokhin; Russian Medical Academy of Continuing Professional EducationRussian Federation202325082023224331342Copyright © Белышева Т.С., Наседкина Т.В., Валиев Т.Т., Шарапова Е.В., Семенова В.В., Козлова В.М., Михайлова С.Н., Клецкая И.С., Бутузов А.В., Вишневская Я.В., Лозовая В.В., Гусарова О.А., Туманян А.О., Малихова О.А., Варфоломеева С.Р., 20232023Белышева Т.С., Наседкина Т.В., Валиев Т.Т., Шарапова Е.В., Семенова В.В., Козлова В.М., Михайлова С.Н., Клецкая И.С., Бутузов А.В., Вишневская Я.В., Лозовая В.В., Гусарова О.А., Туманян А.О., Малихова О.А., Варфоломеева С.Р.Belysheva T.S., Nasedkina T.V., Valiev T.T., Sharapova E.V., Semenova V.V., Kozlova V.M., Mikhaylova S.N., Kletskaya I.S., Butuzov A.V., Vishnevskaja Y.V., Lozovaya V.V., Gusarova O.A., Tumanyan A.O., Malichova O.A., Varfolomeeva S.R.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://vsp.spr-journal.ru/jour/article/view/3271

Обоснование. Наследственные полипозные синдромы (НПС) представляют собой группу редких генетических заболеваний, характеризующихся развитием множественных эпителиальных образований в желудочно-кишечном тракте (ЖКТ), обладающих высоким риском малигнизации и развития неоплазий других локализаций. Тактика динамического наблюдения при наследственных полипозах имеет существенные различия, и дифференциальная диагностика может представлять сложность ввиду вариабельности фенотипа и сходства клинических проявлений. Цель исследования — определить роль молекулярно-генетического тестирования и эндоскопического исследования в диагностике и лечении детей с наследственными полипозными синдромами. Материалы и методы. В ретроспективное наблюдательное исследование были включены 17 пациентов с клиническими признаками наследственных полипозов, обратившихся в НИИ детской онкологии и гематологии им. Л.А. Дурнова за период с 2013 по 2023 г. Всем пациентам было выполнено молекулярно-генетическое тестирование и комплексное эндоскопическое исследование верхних и нижних отделов ЖКТ. Результаты. По результатам генетического тестирования выделены 7 групп пациентов с различными мутациями в генах, ассоциированных с наследственными опухолевыми синдромами: STK11 (35,3%; n = 6), APC (17,6%; n = 3), PTEN (11,8%; n = 2), SMAD4 (5,9%; n = 1), BMPR1A (5,9%; n = 1), MUTYH (5,9%; n = 1), MLH1 (5,9%; n = 1). Также у одной пациентки с колоректальным раком на фоне предшествующего аденоматозного полипа выявлены патогенные варианты мутаций в генах ATM и CHEK2, что можно рассматривать как наличие мультилокусного опухолевого синдрома (MINAS) (5,9%, n = 1). У одной (5,9%) пациентки с множественными гамартомными полипами тела желудка и множественными гастроинтестинальными стромальными опухолями желудка (ГИСО) патогенных мутаций не выявлено. Комплексное эндоскопическое исследование проведено 14 (82,3%) пациентам, во всех случаях были выявлены эпителиальные или неэпителиальные образования желудка и кишечника. Злокачественные новообразования 12-перстной и толстой кишок диагностированы у 3 из 14 пациентов (21,4%). Морфологические варианты выявленных образований в ЖКТ были представлены гамартомными, гиперпластическими и ювенильными полипами, аденомами, зубчатыми аденомами, аденокарциномой и ГИСО. Выявленные эпителиальные образования в желудке, 12-перстной кишке и толстой кишке у 8 из 14 пациентов (57,1%) были удалены методами эндоскопической полипэктомии и эндоскопической резекции слизистой оболочки. В отдельных случаях проводили резекцию тонкой кишки (14,3%, n = 2), тотальную колэктомию (14,3%, n = 2) и гастрэктомию (14,3%, n = 2). Заключение. Понимание молекулярно-биологической этиологии развития НПС, особенностей эндоскопической диагностики и лечения позволяет оптимизировать тактику ведения данной группы пациентов и минимизировать риски развития злокачественных новообразований верхних и нижних отделов ЖКТ, а также опухолей внекишечной локализации путем проведения своевременных лечебно-профилактических мероприятий.

Background. Hereditary polyposis syndromes (HPS) are a group of rare genetic diseases characterized by multiple epithelial lesions in the gastrointestinal tract (GIT) with high risk of malignancy and neoplasia development in other localizations. The case follow-up tactics in hereditary polyposes have significant differences, and differential diagnosis can be complicated due to the phenotype variability and the clinical manifestations similarity. Objective. The aim of the study is to determine the role of molecular genetic testing and endoscopic examination in the diagnosis and management of children with HPS. Materials and methods. The retrospective observational study included 17 patients with clinical signs of hereditary polyposes who applied to the L.A. Durnov Research Institute of Pediatric Oncology and Hematology during the period from 2013 to 2023. All patients underwent molecular genetic testing and comprehensive endoscopic examination of upper and lower GIT. Results. We have divided patients into 7 groups according to the results of genetic testing. Patients had various mutations in genes associated with hereditary tumor syndromes: STK11 (35.3%; n = 6), APC (17.6%; n = 3), PTEN (11.8%; n = 2), SMAD4 (5.9%; n = 1), BMPR1A (5.9%; n = 1), MUTYH (5.9%; n = 1), MLH1 (5.9%; n = 1). One female patient with colorectal cancer with history of adenomatous polyp had pathogenic variants in the ATM and CHEK2 genes; it could be considered as multi-locus tumor syndrome (MINAS) (5.9%, n = 1). Another female patient (5.9%) had multiple gastric body hamartoma polyps and multiple gastric gastrointestinal stromal tumors (GIST) but with no pathogenic mutations. Complex endoscopic examination was performed in 14 (82.3%) patients. Epithelial or non-epithelial lesions of the stomach and intestine were revealed in all cases. Malignant tumors of duodenum and colon were diagnosed in 3 out of 14 patients (21.4%). Morphological variants of these GIT lesions were represented by hamartoma, hyperplastic, and juvenile polyps, adenomas, serrated adenomas, adenocarcinoma, and GIST. The diagnosed epithelial lesions of the stomach, duodenum, and colon were removed via endoscopic polypectomy and endoscopic mucosal resection in 8 out of 14 patients (57.1%). Some cases required small bowel resection (14.3%, n = 2), total colectomy (14.3%, n = 2), and gastrectomy (14.3%, n = 2). Conclusion. Understanding the molecular and biological etiology of HPS, its endoscopic diagnosis, and treatment features allows us to optimize the management of such patients and to minimize the risks of developing malignant tumors in upper and lower GIT, as well as extraintestinal tumors by carrying out timely medical and preventive measures.

наследственные полипозные синдромыгамартомные полипозыаденоматозные полипозысиндром Пейтца-Егерсасиндром Коуденанаследственный ювенильный полипозсемейный аденоматозный полипозMUTYH-ассоциированный полипозсиндром Линчаэндоскопическая диагностикаэндоскопическое лечениеполипэктомияколоректальный ракгенные мутацииAPCMUTYHSTK11SMAD4BMPR1APTENhereditary polyposis syndromeshamartomatous polyposisadenomatous polyposisPeutz-Jeghers syndromeCowden syndromehereditary juvenile polyposisfamilial adenomatous polyposisMUTYH-associated polyposisLynch syndromeendoscopic examinationendoscopic treatmentpolypectomycolorectal cancergene mutationAPCMUTYHSTK11SMAD4BMPR1APTENОтсутствует.Not specified.ReferencesVyas M, Yang X, Zhang X. Gastric Hamartomatous Polyps-Review and Update. Clin Med Insights Gastroenterol. 2016;9:3–10. doi: https://doi.org/10.4137/CGast.S38452Vyas M, Yang X, Zhang X. Gastric Hamartomatous Polyps-Review and Update. Clin Med Insights Gastroenterol. 2016;9:3–10. doi: https://doi.org/10.4137/CGast.S38452Kidambi TD, Kohli DR, Samadder NJ, Singh A. Hereditary Polyposis Syndromes. Curr Treat Options Gastroenterol. 2019;17(4): 650–665. doi: https://doi.org/10.1007/s11938-019-00251-4Kidambi TD, Kohli DR, Samadder NJ, Singh A. Hereditary Polyposis Syndromes. Curr Treat Options Gastroenterol. 2019;17(4): 650–665. doi: https://doi.org/10.1007/s11938-019-00251-4Pachler FR, Byrjalsen A, Karstensen JG, Jelsig AM. Hereditary polyposis syndromes remain a challenging disease entity: Old dilemmas and new insights. World J Gastrointest Surg. 2023;15(1): 1–8. doi: https://doi.org/10.4240/wjgs.v15.i1.1Pachler FR, Byrjalsen A, Karstensen JG, Jelsig AM. Hereditary polyposis syndromes remain a challenging disease entity: Old dilemmas and new insights. World J Gastrointest Surg. 2023;15(1): 1–8. doi: https://doi.org/10.4240/wjgs.v15.i1.1Latchford A, Cohen S, Auth M, et al. Management of Peutz-Jeghers Syndrome in Children and Adolescents: A Position Paper From the ESPGHAN Polyposis Working Group. J Pediatr Gastroenterol Nutr. 2019;68(3):442–452. doi: https://doi.org/10.1097/MPG.0000000000002248Latchford A, Cohen S, Auth M, et al. Management of Peutz-Jeghers Syndrome in Children and Adolescents: A Position Paper From the ESPGHAN Polyposis Working Group. J Pediatr Gastroenterol Nutr. 2019;68(3):442–452. doi: https://doi.org/10.1097/MPG.0000000000002248Tacheci I, Kopacova M, Bures J. Peutz-Jeghers syndrome. Curr Opin Gastroenterol. 2021;37(3):245–254. doi: https://doi.org/10.1097/MOG.0000000000000718Tacheci I, Kopacova M, Bures J. Peutz-Jeghers syndrome. Curr Opin Gastroenterol. 2021;37(3):245–254. doi: https://doi.org/10.1097/MOG.0000000000000718Gammon A, Jasperson K, Kohlmann W, Burt RW. Hamartomatous polyposis syndromes. Best Pract Res Clin Gastroenterol. 2009;23(2): 219–231. doi: https://doi.org/10.1016/j.bpg.2009.02.007Gammon A, Jasperson K, Kohlmann W, Burt RW. Hamartomatous polyposis syndromes. Best Pract Res Clin Gastroenterol. 2009;23(2): 219–231. doi: https://doi.org/10.1016/j.bpg.2009.02.007Jass JR. Colorectal polyposes: from phenotype to diagnosis. Pathol Res Pract. 2008;204(7):431–447. doi: https://doi.org/10.1016/j.prp.2008.03.008Jass JR. Colorectal polyposes: from phenotype to diagnosis. Pathol Res Pract. 2008;204(7):431–447. doi: https://doi.org/10.1016/j.prp.2008.03.008Wu M, Krishnamurthy K. Peutz-Jeghers Syndrome. In: StatPearls. Treasure Island (FL): StatPearls Publishing; 2022.Wu M, Krishnamurthy K. Peutz-Jeghers Syndrome. In: StatPearls. Treasure Island (FL): StatPearls Publishing; 2022.Burke CA, Santisi J, Church J, Levinthal G. The utility of capsule endoscopy small bowel surveillance in patients with polyposis. Am J Gastroenterol. 2005;100(7):1498–1502. doi: https://doi.org/10.1111/j.1572-0241.2005.41506.xBurke CA, Santisi J, Church J, Levinthal G. The utility of capsule endoscopy small bowel surveillance in patients with polyposis. Am J Gastroenterol. 2005;100(7):1498–1502. doi: https://doi.org/10.1111/j.1572-0241.2005.41506.xMata A, Llach J, Castells A, et al. A prospective trial comparing wireless capsule endoscopy and barium contrast series for small-bowel surveillance in hereditary GI polyposis syndromes. Gastrointest Endosc. 2005;61(6):721–725. doi: https://doi.org/10.1016/s0016-5107(05)00289-0Mata A, Llach J, Castells A, et al. A prospective trial comparing wireless capsule endoscopy and barium contrast series for small-bowel surveillance in hereditary GI polyposis syndromes. Gastrointest Endosc. 2005;61(6):721–725. doi: https://doi.org/10.1016/s0016-5107(05)00289-0Soares J, Lopes L, Vilas Boas G, Pinho C. Wireless capsule endoscopy for evaluation of phenotypic expression of small-bowel polyps in patients with Peutz-Jeghers syndrome and in symptomatic first-degree relatives. Endoscopy. 2004;36(12):1060–1066. doi: https://doi.org/10.1055/s-2004-826038Soares J, Lopes L, Vilas Boas G, Pinho C. Wireless capsule endoscopy for evaluation of phenotypic expression of small-bowel polyps in patients with Peutz-Jeghers syndrome and in symptomatic first-degree relatives. Endoscopy. 2004;36(12):1060–1066. doi: https://doi.org/10.1055/s-2004-826038Hruban RH, Canto MI, Yeo CJ. Prevention of pancreatic cancer and strategies for management of familial pancreatic cancer. Dig Dis. 2001;19(1):76–84. doi: https://doi.org/10.1159/000050656Hruban RH, Canto MI, Yeo CJ. Prevention of pancreatic cancer and strategies for management of familial pancreatic cancer. Dig Dis. 2001;19(1):76–84. doi: https://doi.org/10.1159/000050656Lam-Himlin D, Park JY, Cornish TC, et al. Morphologic characterization of syndromic gastric polyps. Am J Surg Pathol. 2010;34(11):1656–1662. doi: https://doi.org/10.1097/PAS.0b013e3181f2b1f1Lam-Himlin D, Park JY, Cornish TC, et al. Morphologic characterization of syndromic gastric polyps. Am J Surg Pathol. 2010;34(11):1656–1662. doi: https://doi.org/10.1097/PAS.0b013e3181f2b1f1Brosens LA, Wood LD, Offerhaus GJ, et al. Pathology and Genetics of Syndromic Gastric Polyps. Int J Surg Pathol. 2016;24(3): 185–199. doi: https://doi.org/10.1177/1066896915620013Brosens LA, Wood LD, Offerhaus GJ, et al. Pathology and Genetics of Syndromic Gastric Polyps. Int J Surg Pathol. 2016;24(3): 185–199. doi: https://doi.org/10.1177/1066896915620013Kato M, Mizuki A, Hayashi T, et al. Cowden’s disease diagnosed through mucocutaneous lesions and gastrointestinal polyposis with recurrent hematochezia, unrevealed by initial diagnosis. Intern Med. 2000;39(7):559–563. doi: https://doi.org/10.2169/internalmedicine.39.559Kato M, Mizuki A, Hayashi T, et al. Cowden’s disease diagnosed through mucocutaneous lesions and gastrointestinal polyposis with recurrent hematochezia, unrevealed by initial diagnosis. Intern Med. 2000;39(7):559–563. doi: https://doi.org/10.2169/internalmedicine.39.559McGarrity TJ, Wagner Baker MJ, Ruggiero FM, et al. GI polyposis and glycogenic acanthosis of the esophagus associated with PTEN mutation positive Cowden syndrome in the absence of cutaneous manifestations. Am J Gastroenterol. 2003;98(6):1429–1434. doi: https://doi.org/10.1111/j.1572-0241.2003.07496.xMcGarrity TJ, Wagner Baker MJ, Ruggiero FM, et al. GI polyposis and glycogenic acanthosis of the esophagus associated with PTEN mutation positive Cowden syndrome in the absence of cutaneous manifestations. Am J Gastroenterol. 2003;98(6):1429–1434. doi: https://doi.org/10.1111/j.1572-0241.2003.07496.xGarofola C, Jamal Z, Gross GP. Cowden Disease. In: StatPearls. Treasure Island (FL): StatPearls Publishing; 2023.Garofola C, Jamal Z, Gross GP. Cowden Disease. In: StatPearls. Treasure Island (FL): StatPearls Publishing; 2023.Heald B, Mester J, Rybicki L, et al. Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers. Gastroenterology. 2010;139(6): 1927–1933. doi: https://doi.org/10.1053/j.gastro.2010.06.061Heald B, Mester J, Rybicki L, et al. Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers. Gastroenterology. 2010;139(6): 1927–1933. doi: https://doi.org/10.1053/j.gastro.2010.06.061Coriat R, Mozer M, Caux F, et al. Endoscopic findings in Cowden syndrome [published correction appears in Endoscopy. 2011;43(12):1096. Endoscopy. 2011;43(8):723–726. doi: https://doi.org/10.1055/s-0030-1256342Coriat R, Mozer M, Caux F, et al. Endoscopic findings in Cowden syndrome [published correction appears in Endoscopy. 2011;43(12):1096. Endoscopy. 2011;43(8):723–726. doi: https://doi.org/10.1055/s-0030-1256342Chung DC, Adar T. Juvenile polyposis syndrome. In: UpToDate. Available online: https://www.uptodate.com/contents/juvenile-polyposis-syndrome. Accessed on August 20, 2923.Chung DC, Adar T. Juvenile polyposis syndrome. In: UpToDate. Available online: https://www.uptodate.com/contents/juvenile-polyposis-syndrome. Accessed on August 20, 2923.van Hattem WA, Langeveld D, de Leng WW, et al. Histologic variations in juvenile polyp phenotype correlate with genetic defect underlying juvenile polyposis. Am J Surg Pathol. 2011;35(4): 530–536. doi: https://doi.org/10.1097/PAS.0b013e318211cae1van Hattem WA, Langeveld D, de Leng WW, et al. Histologic variations in juvenile polyp phenotype correlate with genetic defect underlying juvenile polyposis. Am J Surg Pathol. 2011;35(4): 530–536. doi: https://doi.org/10.1097/PAS.0b013e318211cae1Jass JR, Williams CB, Bussey HJ, Morson BC. Juvenile polyposis — a precancerous condition. Histopathology. 1988;13(6):619–630. doi: https://doi.org/10.1111/j.1365-2559.1988.tb02093.xJass JR, Williams CB, Bussey HJ, Morson BC. Juvenile polyposis — a precancerous condition. Histopathology. 1988;13(6):619–630. doi: https://doi.org/10.1111/j.1365-2559.1988.tb02093.xKang B, Hwang SK, Choi S, et al. Case report of juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome: first report in Korea with a novel mutation in the SMAD4 gene. Transl Pediatr. 2021;10(5):1369–1376. doi: https://doi.org/10.21037/tp-21-12Kang B, Hwang SK, Choi S, et al. Case report of juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome: first report in Korea with a novel mutation in the SMAD4 gene. Transl Pediatr. 2021;10(5):1369–1376. doi: https://doi.org/10.21037/tp-21-12Upadhyaya VD, Gangopadhyaya AN, Sharma SP, et al. Juvenile polyposis syndrome. J Indian Assoc Pediatr Surg. 2008;13(4): 128–131. doi: https://doi.org/10.4103/0971-9261.44762Upadhyaya VD, Gangopadhyaya AN, Sharma SP, et al. Juvenile polyposis syndrome. J Indian Assoc Pediatr Surg. 2008;13(4): 128–131. doi: https://doi.org/10.4103/0971-9261.44762Schreibman IR, Baker M, Amos C, McGarrity TJ. The hamartomatous polyposis syndromes: a clinical and molecular review. Am J Gastroenterol. 2005;100(2):476–490. doi: https://doi.org/10.1111/j.1572-0241.2005.40237.xSchreibman IR, Baker M, Amos C, McGarrity TJ. The hamartomatous polyposis syndromes: a clinical and molecular review. Am J Gastroenterol. 2005;100(2):476–490. doi: https://doi.org/10.1111/j.1572-0241.2005.40237.xZbuk KM, Eng C. Hamartomatous polyposis syndromes. Nat Clin Pract Gastroenterol Hepatol. 2007;4(9):492–502. doi: https://doi.org/10.1038/ncpgasthep0902Zbuk KM, Eng C. Hamartomatous polyposis syndromes. Nat Clin Pract Gastroenterol Hepatol. 2007;4(9):492–502. doi: https://doi.org/10.1038/ncpgasthep0902Half E, Bercovich D, Rozen P. Familial adenomatous polyposis. Orphanet J Rare Dis. 2009;4:22. doi: https://doi.org/10.1186/1750-1172-4-22Half E, Bercovich D, Rozen P. Familial adenomatous polyposis. Orphanet J Rare Dis. 2009;4:22. doi: https://doi.org/10.1186/1750-1172-4-22Aelvoet AS, Buttitta F, Ricciardiello L, Dekker E. Management of familial adenomatous polyposis and MUTYH-associated polyposis; new insights. Best Pract Res Clin Gastroenterol. 2022;58-59: 101793. doi: https://doi.org/10.1016/j.bpg.2022.101793Aelvoet AS, Buttitta F, Ricciardiello L, Dekker E. Management of familial adenomatous polyposis and MUTYH-associated polyposis; new insights. Best Pract Res Clin Gastroenterol. 2022;58-59: 101793. doi: https://doi.org/10.1016/j.bpg.2022.101793Carr S, Kasi A. Familial Adenomatous Polyposis. In: StatPearls. Treasure Island (FL): StatPearls Publishing; 2023.Carr S, Kasi A. Familial Adenomatous Polyposis. In: StatPearls. Treasure Island (FL): StatPearls Publishing; 2023.Hayashi N, Tanaka S, Hewett DG, et al. Endoscopic prediction of deep submucosal invasive carcinoma: validation of the narrow-band imaging international colorectal endoscopic (NICE) classification. Gastrointest Endosc. 2013;78(4):625–632. doi: https://doi.org/10.1016/j.gie.2013.04.185Hayashi N, Tanaka S, Hewett DG, et al. Endoscopic prediction of deep submucosal invasive carcinoma: validation of the narrow-band imaging international colorectal endoscopic (NICE) classification. Gastrointest Endosc. 2013;78(4):625–632. doi: https://doi.org/10.1016/j.gie.2013.04.185Coffey A, Patel K, Quintanilla N, et al. Fundic Gland Polyps in the Pediatric Population: Clinical and Histopathologic Studies. Pediatr Dev Pathol. 2017;20(6):482–489. doi: https://doi.org/10.1177/1093526617706816Coffey A, Patel K, Quintanilla N, et al. Fundic Gland Polyps in the Pediatric Population: Clinical and Histopathologic Studies. Pediatr Dev Pathol. 2017;20(6):482–489. doi: https://doi.org/10.1177/1093526617706816Guarinos C, Juárez 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):1158–1168. doi: https://doi.org/10.1158/1078-0432.CCR-13-1490Guarinos C, Juárez 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):1158–1168. doi: https://doi.org/10.1158/1078-0432.CCR-13-1490McGuigan A, Whitworth J, Andreou A, et al. Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update. Eur J Hum Genet. 2022;30(3):265–270. doi: https://doi.org/10.1038/s41431-021-01013-6McGuigan A, Whitworth J, Andreou A, et al. Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update. Eur J Hum Genet. 2022;30(3):265–270. doi: https://doi.org/10.1038/s41431-021-01013-6Ferlitsch M, Moss A, Hassan C, et al. Colorectal polypectomy and endoscopic mucosal resection (EMR): European Society of Gastrointestinal Endoscopy (ESGE) Clinical Guideline. Endoscopy. 2017;49(3):270–297. doi: https://doi.org/10.1055/s-0043-102569Ferlitsch M, Moss A, Hassan C, et al. Colorectal polypectomy and endoscopic mucosal resection (EMR): European Society of Gastrointestinal Endoscopy (ESGE) Clinical Guideline. Endoscopy. 2017;49(3):270–297. doi: https://doi.org/10.1055/s-0043-102569Rebuzzi F, Ulivi P, Tedaldi G. Genetic Predisposition to Colorectal Cancer: How Many and Which Genes to Test? Int J Mol Sci. 2023;24(3):2137. doi: https://doi.org/10.3390/ijms24032137Rebuzzi F, Ulivi P, Tedaldi G. Genetic Predisposition to Colorectal Cancer: How Many and Which Genes to Test? Int J Mol Sci. 2023;24(3):2137. doi: https://doi.org/10.3390/ijms24032137Yalcintepe S, Gurkan H, Demir S, et al. Targeted next-generation sequencing as a diagnostic tool in gastrointestinal system cancer/polyposis patients. Tumori. 2020;106(6):510–517. doi: https://doi.org/10.1177/0300891620919171Yalcintepe S, Gurkan H, Demir S, et al. Targeted next-generation sequencing as a diagnostic tool in gastrointestinal system cancer/polyposis patients. Tumori. 2020;106(6):510–517. doi: https://doi.org/10.1177/0300891620919171Wang D, Liang S, Zhang X, et al. Targeted next-generation sequencing approach for molecular genetic diagnosis of hereditary colorectal cancer: Identification of a novel single nucleotide germline insertion in adenomatous polyposis coli gene causes familial adenomatous polyposis. Mol Genet Genomic Med. 2019;7(1):e00505. doi: https://doi.org/10.1002/mgg3.505Wang D, Liang S, Zhang X, et al. Targeted next-generation sequencing approach for molecular genetic diagnosis of hereditary colorectal cancer: Identification of a novel single nucleotide germline insertion in adenomatous polyposis coli gene causes familial adenomatous polyposis. Mol Genet Genomic Med. 2019;7(1):e00505. doi: https://doi.org/10.1002/mgg3.505

The authors declare that there are no conflicts of interest present.