AIM: To investigate our clinical experience with the colonic manifestations of phosphatase and tensin homolog on chromosome ten (PTEN) hamartoma tumor syndrome (PHTS) and to perform a systematic literature review rega...AIM: To investigate our clinical experience with the colonic manifestations of phosphatase and tensin homolog on chromosome ten (PTEN) hamartoma tumor syndrome (PHTS) and to perform a systematic literature review regarding the same.展开更多
Phosphatase and tensin homolog(PTEN)is a tumor sup-pressor gene located at 10q23.3 and serves as a crucial negative regulator of the PI3K-AKT signaling cascade by dephosphorylating phosphatidylinositol(3,4,5)-triphos-...Phosphatase and tensin homolog(PTEN)is a tumor sup-pressor gene located at 10q23.3 and serves as a crucial negative regulator of the PI3K-AKT signaling cascade by dephosphorylating phosphatidylinositol(3,4,5)-triphos-phate and inhibiting AKT activation.PTEN hamartoma tumor syndrome(PHTS)is an umbrella term employed to describe a spectrum of disorders caused by germline PTEN variants,including Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.While distinct entitles included in PHTS have their unique diagnostic criteria,they also share common phenotypic features such as benign hamartomas of the three germ layers.展开更多
文摘AIM: To investigate our clinical experience with the colonic manifestations of phosphatase and tensin homolog on chromosome ten (PTEN) hamartoma tumor syndrome (PHTS) and to perform a systematic literature review regarding the same.
基金supported by the Major and Key Cultivation Projects of Ninth People’s Hospital affiliated to Shanghai Jiao Tong University School of Medicine(No.JYZP005)the Top Priority Research Center of Shanghai-Plastic Surgery Research Center,China(No.2023ZZ02023)+1 种基金the Fundamental Research Funds for the Central Universities of China(No.YG2023ZD13)the Treatment and Mechanism of PI3K/mTOR Dual-Target Inhibitor(WX390)on PIK3CA-Related Overgrowth Spectrum(PROS)(China)(No.JYHX2022004).
文摘Phosphatase and tensin homolog(PTEN)is a tumor sup-pressor gene located at 10q23.3 and serves as a crucial negative regulator of the PI3K-AKT signaling cascade by dephosphorylating phosphatidylinositol(3,4,5)-triphos-phate and inhibiting AKT activation.PTEN hamartoma tumor syndrome(PHTS)is an umbrella term employed to describe a spectrum of disorders caused by germline PTEN variants,including Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.While distinct entitles included in PHTS have their unique diagnostic criteria,they also share common phenotypic features such as benign hamartomas of the three germ layers.
