期刊
NATURE CLINICAL PRACTICE ONCOLOGY
卷 5, 期 6, 页码 357-361出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ncponc1112
关键词
insulin-like growth factor binding protein-2; phosphatidylinositol 3-kinase; Proteus syndrome; PTEN hamartoma tumor syndrome; rapamycin
类别
Background A 9-month-old boy with Proteus syndrome and a de novo germline mutation in the tumor suppressor PTEN was referred to a specialist centre for management. Over the first years of life, the patient developed life-threatening respiratory dysfunction and malnutrition because of progressive growth of hamartomas affecting the chest, mediastinum, abdomen and pelvis. Investigations Physical examination, CT scans of the mediastinum, pelvis and abdomen, measurement of serum insulin-like growth fact. or binding protein-2, and investigation of the effect of the PTEN mutation on phosphatidylinositol 3-kinase/mammalian target of rapamycin signaling in an in vitro cell model. Diagnosis PTEN hamartoma tumor syndrome, specifically Proteus syndrome. Management Oral rapamycin.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据