Role of Genetic Testing and Complex Endoscopic Examination in Differential Diagnosis of Hereditary Polyposes in Pediatric and Adolescent Patients: 10 Years Clinical Experience
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 hav...
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"Paediatrician" Publishers LLC
2023-08-01
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| Series: | Вопросы современной педиатрии |
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| Online Access: | https://vsp.spr-journal.ru/jour/article/view/3271 |
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| author | Tatiana S. Belysheva Tatiana V. Nasedkina Timur T. Valiev Elena V. Sharapova Vera V. Semenova Valentina M. Kozlova Svetlana N. Mikhaylova Irina S. Kletskaya Alexey V. Butuzov Yana V. Vishnevskaja Valeria V. Lozovaya Olga A. Gusarova Armen O. Tumanyan Olga A. Malichova Svetlana R. Varfolomeeva |
| author_facet | Tatiana S. Belysheva Tatiana V. Nasedkina Timur T. Valiev Elena V. Sharapova Vera V. Semenova Valentina M. Kozlova Svetlana N. Mikhaylova Irina S. Kletskaya Alexey V. Butuzov Yana V. Vishnevskaja Valeria V. Lozovaya Olga A. Gusarova Armen O. Tumanyan Olga A. Malichova Svetlana R. Varfolomeeva |
| author_sort | Tatiana S. Belysheva |
| collection | DOAJ |
| description | 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. |
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| issn | 1682-5527 1682-5535 |
| language | English |
| publishDate | 2023-08-01 |
| publisher | "Paediatrician" Publishers LLC |
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| series | Вопросы современной педиатрии |
| spelling | doaj-art-011e6e7a0dea4c1fbb5c37943a6d301f2025-08-04T13:09:42Zeng"Paediatrician" Publishers LLCВопросы современной педиатрии1682-55271682-55352023-08-0122433134210.15690/vsp.v22i4.26142119Role of Genetic Testing and Complex Endoscopic Examination in Differential Diagnosis of Hereditary Polyposes in Pediatric and Adolescent Patients: 10 Years Clinical ExperienceTatiana S. Belysheva0Tatiana V. Nasedkina1Timur T. Valiev2Elena V. Sharapova3Vera V. Semenova4Valentina M. Kozlova5Svetlana N. Mikhaylova6Irina S. Kletskaya7Alexey V. Butuzov8Yana V. Vishnevskaja9Valeria V. Lozovaya10Olga A. Gusarova11Armen O. Tumanyan12Olga A. Malichova13Svetlana R. Varfolomeeva14National Medical Research Center of Oncology named after N.N. BlokhinEngelhardt Institute of Molecular Biology, RASNational Medical Research Center of Oncology named after N.N. BlokhinNational Medical Research Center of Oncology named after N.N. BlokhinNational Medical Research Center of Oncology named after N.N. Blokhin; Engelhardt Institute of Molecular Biology, RASNational Medical Research Center of Oncology named after N.N. BlokhinNational Medical Research Center of Oncology named after N.N. BlokhinRussian Children’s Clinical Hospital, Pirogov Russian National Research Medical UniversityRussian Children’s Clinical Hospital, Pirogov Russian National Research Medical UniversityNational Medical Research Center of Oncology named after N.N. BlokhinNational Medical Research Center of Oncology named after N.N. BlokhinNational Medical Research Center of Oncology named after N.N. BlokhinNational Medical Research Center of Oncology named after N.N. BlokhinNational Medical Research Center of Oncology named after N.N. Blokhin; Russian Medical Academy of Continuing Professional EducationNational Medical Research Center of Oncology named after N.N. BlokhinBackground. 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.https://vsp.spr-journal.ru/jour/article/view/3271hereditary polyposis syndromeshamartomatous polyposisadenomatous polyposispeutz-jeghers syndromecowden syndromehereditary juvenile polyposisfamilial adenomatous polyposismutyh-associated polyposislynch syndromeendoscopic examinationendoscopic treatmentpolypectomycolorectal cancergene mutationapcmutyhstk11smad4bmpr1apten |
| spellingShingle | Tatiana S. Belysheva Tatiana V. Nasedkina Timur T. Valiev Elena V. Sharapova Vera V. Semenova Valentina M. Kozlova Svetlana N. Mikhaylova Irina S. Kletskaya Alexey V. Butuzov Yana V. Vishnevskaja Valeria V. Lozovaya Olga A. Gusarova Armen O. Tumanyan Olga A. Malichova Svetlana R. Varfolomeeva Role of Genetic Testing and Complex Endoscopic Examination in Differential Diagnosis of Hereditary Polyposes in Pediatric and Adolescent Patients: 10 Years Clinical Experience Вопросы современной педиатрии hereditary polyposis syndromes hamartomatous polyposis adenomatous polyposis peutz-jeghers syndrome cowden syndrome hereditary juvenile polyposis familial adenomatous polyposis mutyh-associated polyposis lynch syndrome endoscopic examination endoscopic treatment polypectomy colorectal cancer gene mutation apc mutyh stk11 smad4 bmpr1a pten |
| title | Role of Genetic Testing and Complex Endoscopic Examination in Differential Diagnosis of Hereditary Polyposes in Pediatric and Adolescent Patients: 10 Years Clinical Experience |
| title_full | Role of Genetic Testing and Complex Endoscopic Examination in Differential Diagnosis of Hereditary Polyposes in Pediatric and Adolescent Patients: 10 Years Clinical Experience |
| title_fullStr | Role of Genetic Testing and Complex Endoscopic Examination in Differential Diagnosis of Hereditary Polyposes in Pediatric and Adolescent Patients: 10 Years Clinical Experience |
| title_full_unstemmed | Role of Genetic Testing and Complex Endoscopic Examination in Differential Diagnosis of Hereditary Polyposes in Pediatric and Adolescent Patients: 10 Years Clinical Experience |
| title_short | Role of Genetic Testing and Complex Endoscopic Examination in Differential Diagnosis of Hereditary Polyposes in Pediatric and Adolescent Patients: 10 Years Clinical Experience |
| title_sort | role of genetic testing and complex endoscopic examination in differential diagnosis of hereditary polyposes in pediatric and adolescent patients 10 years clinical experience |
| topic | hereditary polyposis syndromes hamartomatous polyposis adenomatous polyposis peutz-jeghers syndrome cowden syndrome hereditary juvenile polyposis familial adenomatous polyposis mutyh-associated polyposis lynch syndrome endoscopic examination endoscopic treatment polypectomy colorectal cancer gene mutation apc mutyh stk11 smad4 bmpr1a pten |
| url | https://vsp.spr-journal.ru/jour/article/view/3271 |
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