{"title":"中国人群结直肠息肉综合征研究进展。","authors":"Zhijun Yuan, Mengyuan Yang, Ying Yuan","doi":"10.1055/s-0043-1767708","DOIUrl":null,"url":null,"abstract":"<p><p>The pathogenesis, clinical phenotype, treatment strategy, and family management of hereditary tumor syndromes are different from those of sporadic tumors. Nearly a quarter of patients with colorectal cancer show significant familial aggregation and genetic predisposition, and 5 to 10% are associated with definite genetic factors. According to the clinical phenotype, it can be divided into nonpolyposis syndrome and polyposis syndrome. Among the polyposis syndrome patients with definite clinical symptoms, there are still some patients with unknown etiology (especially attenuated familial adenomatous polyposis), which is a difficult problem in clinical diagnosis and treatment. Therefore, for this rare disease, it is urgent to carry out multicenter studies, complete the gene variation spectrum, explore new pathogenic factors, and accumulate clinical experience. This article mainly introduces the research progress and related work of colorectal polyposis syndrome in China.</p>","PeriodicalId":48754,"journal":{"name":"Clinics in Colon and Rectal Surgery","volume":"36 6","pages":"391-399"},"PeriodicalIF":1.2000,"publicationDate":"2023-04-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10547542/pdf/","citationCount":"0","resultStr":"{\"title\":\"The Progress of Colorectal Polyposis Syndrome in Chinese Population.\",\"authors\":\"Zhijun Yuan, Mengyuan Yang, Ying Yuan\",\"doi\":\"10.1055/s-0043-1767708\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>The pathogenesis, clinical phenotype, treatment strategy, and family management of hereditary tumor syndromes are different from those of sporadic tumors. Nearly a quarter of patients with colorectal cancer show significant familial aggregation and genetic predisposition, and 5 to 10% are associated with definite genetic factors. According to the clinical phenotype, it can be divided into nonpolyposis syndrome and polyposis syndrome. Among the polyposis syndrome patients with definite clinical symptoms, there are still some patients with unknown etiology (especially attenuated familial adenomatous polyposis), which is a difficult problem in clinical diagnosis and treatment. Therefore, for this rare disease, it is urgent to carry out multicenter studies, complete the gene variation spectrum, explore new pathogenic factors, and accumulate clinical experience. This article mainly introduces the research progress and related work of colorectal polyposis syndrome in China.</p>\",\"PeriodicalId\":48754,\"journal\":{\"name\":\"Clinics in Colon and Rectal Surgery\",\"volume\":\"36 6\",\"pages\":\"391-399\"},\"PeriodicalIF\":1.2000,\"publicationDate\":\"2023-04-09\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10547542/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinics in Colon and Rectal Surgery\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1055/s-0043-1767708\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2023/11/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q4\",\"JCRName\":\"GASTROENTEROLOGY & HEPATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinics in Colon and Rectal Surgery","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1055/s-0043-1767708","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/11/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"GASTROENTEROLOGY & HEPATOLOGY","Score":null,"Total":0}
The Progress of Colorectal Polyposis Syndrome in Chinese Population.
The pathogenesis, clinical phenotype, treatment strategy, and family management of hereditary tumor syndromes are different from those of sporadic tumors. Nearly a quarter of patients with colorectal cancer show significant familial aggregation and genetic predisposition, and 5 to 10% are associated with definite genetic factors. According to the clinical phenotype, it can be divided into nonpolyposis syndrome and polyposis syndrome. Among the polyposis syndrome patients with definite clinical symptoms, there are still some patients with unknown etiology (especially attenuated familial adenomatous polyposis), which is a difficult problem in clinical diagnosis and treatment. Therefore, for this rare disease, it is urgent to carry out multicenter studies, complete the gene variation spectrum, explore new pathogenic factors, and accumulate clinical experience. This article mainly introduces the research progress and related work of colorectal polyposis syndrome in China.
期刊介绍:
Clinics in Colon and Rectal Surgery is a review journal that publishes topic-specific issues on diseases of the small bowel, colon, rectum, and anus.
Designed for clinicians, researchers, and educators involved with diseases of the intestinal tract, the journal covers a broad spectrum of basic information, controversial clinical issues, and established and innovative diagnostic techniques.
Issue topics comprehensively cover the entire specialty over a 3-4 year period, allowing the articles to serve as study material for educational programs and certifying examinations. The inclusion of research and clinical material also allows physicians to remain knowledgeable of current advances in the specialty.