Sirolimus for Colon Polyposis in PTEN Hamartoma Tumor Syndrome.

IF 3 3区医学 Q2 GASTROENTEROLOGY & HEPATOLOGY

Clinical and Translational Gastroenterology Pub Date : 2025-06-06 eCollection Date: 2025-08-01 DOI:10.14309/ctg.0000000000000871

Peter P Stanich, Kebire Gofar, Maegan E Roberts, Hisham Hussan

{"title":"Sirolimus for Colon Polyposis in PTEN Hamartoma Tumor Syndrome.","authors":"Peter P Stanich, Kebire Gofar, Maegan E Roberts, Hisham Hussan","doi":"10.14309/ctg.0000000000000871","DOIUrl":null,"url":null,"abstract":"Introduction: PTEN hamartoma tumor syndrome (PHTS) is a rare condition with a high rate of colon polyposis. Sirolimus may reduce colorectal polyps in PHTS. We designed a trial to assess the safety and impact of sirolimus on colon polyp burden in PHTS.Methods: We performed an open-label trial of sirolimus for 1 year in adults with a PTEN pathogenic variant and colon polyposis. The primary outcome was change in polyp burden and staging.Results: Five participants were enrolled, with 2 completing the planned study course. Baseline colonoscopies showed a mean polyp burden of 107 (range 31-184), with multiple histologic types. For the 2 patients completing the study, polyp burden decreased.Discussion: Sirolimus has promise for reduction of colon polyp burden in PHTS, but side effects may limit usage. Future treatment trials in rare polyposis syndromes would benefit from the involvement of multiple centers to allow for improved recruitment.","PeriodicalId":10278,"journal":{"name":"Clinical and Translational Gastroenterology","volume":" ","pages":"e00871"},"PeriodicalIF":3.0000,"publicationDate":"2025-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12377304/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical and Translational Gastroenterology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.14309/ctg.0000000000000871","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/8/1 0:00:00","PubModel":"eCollection","JCR":"Q2","JCRName":"GASTROENTEROLOGY & HEPATOLOGY","Score":null,"Total":0}

引用次数: 0

Abstract

Introduction: PTEN hamartoma tumor syndrome (PHTS) is a rare condition with a high rate of colon polyposis. Sirolimus may reduce colorectal polyps in PHTS. We designed a trial to assess the safety and impact of sirolimus on colon polyp burden in PHTS.

Methods: We performed an open-label trial of sirolimus for 1 year in adults with a PTEN pathogenic variant and colon polyposis. The primary outcome was change in polyp burden and staging.

Results: Five participants were enrolled, with 2 completing the planned study course. Baseline colonoscopies showed a mean polyp burden of 107 (range 31-184), with multiple histologic types. For the 2 patients completing the study, polyp burden decreased.

Discussion: Sirolimus has promise for reduction of colon polyp burden in PHTS, but side effects may limit usage. Future treatment trials in rare polyposis syndromes would benefit from the involvement of multiple centers to allow for improved recruitment.

Abstract Image

查看原文本刊更多论文

西罗莫司治疗PTEN错构瘤综合征结肠息肉病。

简介：PTEN错构瘤肿瘤综合征（PHTS）是一种罕见的疾病，结肠息肉病的发病率很高。西罗莫司可减少PHTS患者的结肠息肉。我们设计了一项试验来评估西罗莫司对PHTS患者结肠息肉负荷的安全性和影响。方法：我们对患有PTEN致病性变异和结肠息肉病的成人进行了为期一年的西罗莫司开放标签试验。主要结局是息肉负荷和分期的改变。结果：5名参与者入组，其中2名完成了计划的学习课程。基线结肠镜检查显示平均息肉负担107（范围31 - 184），具有多种组织学类型。对于完成研究的2例患者，息肉负荷下降。讨论：西罗莫司有望减少PHTS患者的结肠息肉负担，但副作用可能限制其使用。未来针对罕见息肉综合征的治疗试验将受益于多中心的参与，以改善招募。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Clinical and Translational Gastroenterology GASTROENTEROLOGY & HEPATOLOGY-

CiteScore

7.00

自引率

0.00%

发文量

114

审稿时长

16 weeks

期刊介绍： Clinical and Translational Gastroenterology (CTG), published on behalf of the American College of Gastroenterology (ACG), is a peer-reviewed open access online journal dedicated to innovative clinical work in the field of gastroenterology and hepatology. CTG hopes to fulfill an unmet need for clinicians and scientists by welcoming novel cohort studies, early-phase clinical trials, qualitative and quantitative epidemiologic research, hypothesis-generating research, studies of novel mechanisms and methodologies including public health interventions, and integration of approaches across organs and disciplines. CTG also welcomes hypothesis-generating small studies, methods papers, and translational research with clear applications to human physiology or disease. Colon and small bowel Endoscopy and novel diagnostics Esophagus Functional GI disorders Immunology of the GI tract Microbiology of the GI tract Inflammatory bowel disease Pancreas and biliary tract Liver Pathology Pediatrics Preventative medicine Nutrition/obesity Stomach.