Stanich Peter P, Gofar Kebire, Roberts Maegan E, Hussan Hisham
Division of Gastroenterology, Hepatology & Nutrition, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.
Division of Human Genetics, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.
Clin Transl Gastroenterol. 2025 Jun 6;16(8):e00871. doi: 10.14309/ctg.0000000000000871. eCollection 2025 Aug 1.
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.
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.
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.
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.
PTEN错构瘤肿瘤综合征（PHTS）是一种罕见疾病，结肠息肉发生率很高。西罗莫司可能会减少PHTS患者的结肠息肉。我们设计了一项试验，以评估西罗莫司对PHTS患者结肠息肉负担的安全性和影响。
我们对患有PTEN致病变异和结肠息肉的成年人进行了为期1年的西罗莫司开放标签试验。主要结局是息肉负担和分期的变化。
招募了5名参与者，其中2名完成了计划的研究疗程。基线结肠镜检查显示息肉平均负担为107（范围31 - 184），有多种组织学类型。对于完成研究的2名患者，息肉负担减轻。
西罗莫司有望减轻PHTS患者的结肠息肉负担，但副作用可能会限制其使用。未来针对罕见息肉病综合征的治疗试验将受益于多个中心的参与，以改善招募情况。
