A. T. Kortieva, V. S. Krushelnitskiy, S. A. Gabriel’, V. Dynko, A. Y. Guchetl, V. M. Durleshter, V. V. Ignatenko
{"title":"peutz - jegers综合征患者的小肠腺癌","authors":"A. T. Kortieva, V. S. Krushelnitskiy, S. A. Gabriel’, V. Dynko, A. Y. Guchetl, V. M. Durleshter, V. V. Ignatenko","doi":"10.30629/0023-2149-2023-101-6-315-318","DOIUrl":null,"url":null,"abstract":"Peutz-Jeghers syndrome is a genetic disorder inherited in an autosomal dominant pattern and characterized by a mutation in the STK11 gene. According to domestic literature, the risk of inheriting this pathology from a parent to a child is 50%. According to WHO data, in 2018, more than 74,000 new cases of colorectal tumors were detected in the Russian Federation, with 5–10% of cases being hereditary syndromes, of which 1% is Peutz-Jeghers syndrome. The frequency of occurrence is approximately 1/29,000–1/120,000. The aim of the work is to share the experience of diagnosing and treating a patient with Peutz-Jeghers syndrome. Today, we have the ability to timely diagnose pathological changes in the mucous membrane of the small intestine, perform minimally invasive treatment, reducing rehabilitation time due to a decrease in surgical trauma.","PeriodicalId":10439,"journal":{"name":"Clinical Medicine (Russian Journal)","volume":"1 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2023-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Adenocarcinoma of the small intestine in a patient with Peutz-Jeghers syndrome\",\"authors\":\"A. T. Kortieva, V. S. Krushelnitskiy, S. A. Gabriel’, V. Dynko, A. Y. Guchetl, V. M. Durleshter, V. V. Ignatenko\",\"doi\":\"10.30629/0023-2149-2023-101-6-315-318\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Peutz-Jeghers syndrome is a genetic disorder inherited in an autosomal dominant pattern and characterized by a mutation in the STK11 gene. According to domestic literature, the risk of inheriting this pathology from a parent to a child is 50%. According to WHO data, in 2018, more than 74,000 new cases of colorectal tumors were detected in the Russian Federation, with 5–10% of cases being hereditary syndromes, of which 1% is Peutz-Jeghers syndrome. The frequency of occurrence is approximately 1/29,000–1/120,000. The aim of the work is to share the experience of diagnosing and treating a patient with Peutz-Jeghers syndrome. Today, we have the ability to timely diagnose pathological changes in the mucous membrane of the small intestine, perform minimally invasive treatment, reducing rehabilitation time due to a decrease in surgical trauma.\",\"PeriodicalId\":10439,\"journal\":{\"name\":\"Clinical Medicine (Russian Journal)\",\"volume\":\"1 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-07-20\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical Medicine (Russian Journal)\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.30629/0023-2149-2023-101-6-315-318\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Medicine (Russian Journal)","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.30629/0023-2149-2023-101-6-315-318","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Adenocarcinoma of the small intestine in a patient with Peutz-Jeghers syndrome
Peutz-Jeghers syndrome is a genetic disorder inherited in an autosomal dominant pattern and characterized by a mutation in the STK11 gene. According to domestic literature, the risk of inheriting this pathology from a parent to a child is 50%. According to WHO data, in 2018, more than 74,000 new cases of colorectal tumors were detected in the Russian Federation, with 5–10% of cases being hereditary syndromes, of which 1% is Peutz-Jeghers syndrome. The frequency of occurrence is approximately 1/29,000–1/120,000. The aim of the work is to share the experience of diagnosing and treating a patient with Peutz-Jeghers syndrome. Today, we have the ability to timely diagnose pathological changes in the mucous membrane of the small intestine, perform minimally invasive treatment, reducing rehabilitation time due to a decrease in surgical trauma.