肿瘤临床经验：重新利用PI3K途径抑制剂治疗PTEN错构瘤综合征

IF 29.7 1区医学 Q1 ONCOLOGY

Cancer discovery Pub Date : 2025-07-03 DOI:10.1158/2159-8290.cd-25-0666

Isabella Del Priore, Alex Toker

{"title":"肿瘤临床经验：重新利用PI3K途径抑制剂治疗PTEN错构瘤综合征","authors":"Isabella Del Priore, Alex Toker","doi":"10.1158/2159-8290.cd-25-0666","DOIUrl":null,"url":null,"abstract":"Summary: The underlying genetic abnormalities that cause the phenotypic variation seen in patients with PTEN hamartoma tumor syndrome (PHTS) are poorly understood. In this issue, Castillo and colleagues report that the somatic loss of PTEN through copy-neutral loss of heterozygosity and the resulting uniparental disomy in endothelial cells lead to vascular malformations in PHTS, which respond to PI3K/AKT/mTOR pathway inhibitors. See related article by Castillo et al., p. 1350 .","PeriodicalId":9430,"journal":{"name":"Cancer discovery","volume":"7 1","pages":""},"PeriodicalIF":29.7000,"publicationDate":"2025-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Lessons from the Oncology Clinic: Repurposing PI3K Pathway Inhibitors for the Treatment of PTEN Hamartoma Tumor Syndrome\",\"authors\":\"Isabella Del Priore, Alex Toker\",\"doi\":\"10.1158/2159-8290.cd-25-0666\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Summary: The underlying genetic abnormalities that cause the phenotypic variation seen in patients with PTEN hamartoma tumor syndrome (PHTS) are poorly understood. In this issue, Castillo and colleagues report that the somatic loss of PTEN through copy-neutral loss of heterozygosity and the resulting uniparental disomy in endothelial cells lead to vascular malformations in PHTS, which respond to PI3K/AKT/mTOR pathway inhibitors. See related article by Castillo et al., p. 1350 .\",\"PeriodicalId\":9430,\"journal\":{\"name\":\"Cancer discovery\",\"volume\":\"7 1\",\"pages\":\"\"},\"PeriodicalIF\":29.7000,\"publicationDate\":\"2025-07-03\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Cancer discovery\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1158/2159-8290.cd-25-0666\",\"RegionNum\":1,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"ONCOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Cancer discovery","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1158/2159-8290.cd-25-0666","RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"ONCOLOGY","Score":null,"Total":0}

引用次数: 0

摘要

摘要：导致PTEN错构瘤肿瘤综合征（PHTS）患者表型变异的潜在遗传异常尚不清楚。在这期杂志中，Castillo及其同事报道了PTEN的体细胞缺失（通过拷贝中性的杂合性缺失和内皮细胞中由此产生的单系二体）导致PHTS的血管畸形，而这些血管畸形对PI3K/AKT/mTOR通路抑制剂有反应。参见卡斯蒂略等人的相关文章，第1350页。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

Lessons from the Oncology Clinic: Repurposing PI3K Pathway Inhibitors for the Treatment of PTEN Hamartoma Tumor Syndrome

Summary: The underlying genetic abnormalities that cause the phenotypic variation seen in patients with PTEN hamartoma tumor syndrome (PHTS) are poorly understood. In this issue, Castillo and colleagues report that the somatic loss of PTEN through copy-neutral loss of heterozygosity and the resulting uniparental disomy in endothelial cells lead to vascular malformations in PHTS, which respond to PI3K/AKT/mTOR pathway inhibitors. See related article by Castillo et al., p. 1350 .

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Cancer discovery ONCOLOGY-

CiteScore

22.90

自引率

1.40%

发文量

838

审稿时长

6-12 weeks

期刊介绍： Cancer Discovery publishes high-impact, peer-reviewed articles detailing significant advances in both research and clinical trials. Serving as a premier cancer information resource, the journal also features Review Articles, Perspectives, Commentaries, News stories, and Research Watch summaries to keep readers abreast of the latest findings in the field. Covering a wide range of topics, from laboratory research to clinical trials and epidemiologic studies, Cancer Discovery spans the entire spectrum of cancer research and medicine.