PTENAlterations and Their Role in Cancer Management: Are We Making Headway on Precision Medicine?

被引:102
作者
Fusco, Nicola [1 ,2 ]
Sajjadi, Elham [2 ]
Venetis, Konstantinos [1 ,2 ,3 ]
Gaudioso, Gabriella [4 ]
Lopez, Gianluca [4 ]
Corti, Chiara [4 ]
Rocco, Elena Guerini [1 ,2 ]
Criscitiello, Carmen [5 ]
Malapelle, Umberto [6 ]
Invernizzi, Marco [7 ]
机构
[1] Univ Milan, Dept Oncol & Hematooncol, I-20122 Milan, Italy
[2] European Inst Oncol IRCCS, Div Pathol & Lab Med, IEO, I-20141 Milan, Italy
[3] Univ Milan, Doctoral Program Translat Med, I-20133 Milan, Italy
[4] Fdn IRCCS Ca Granda Osped Maggiore Policlin, Div Pathol, I-20131 Milan, Italy
[5] European Inst Oncol IRCCS, New Drugs & Early Drug Dev Innovat Therapies Div, IEO, I-20141 Milan, Italy
[6] Univ Federico II, Dept Publ Hlth, I-80138 Naples, Italy
[7] Univ Piemonte Orientale, Dept Hlth Sci, I-28100 Novara, Italy
关键词
PTEN; tumor suppressor; PI3K; Akt; cancer; solid tumors; tumor immune microenvironment; biomarker; precision medicine; TUMOR-SUPPRESSOR GENE; LHERMITTE-DUCLOS-DISEASE; MISMATCH REPAIR; COWDEN SYNDROME; PTEN REGULATION; BREAST-CANCER; PI3K PATHWAY; OVEREXPRESSION; PHOSPHATASE; MUTATIONS;
D O I
10.3390/genes11070719
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Alterations in the tumor suppressor phosphatase and tensin homolog (PTEN) occur in a substantial proportion of solid tumors. These events drive tumorigenesis and tumor progression. Given its central role as a downregulator of the phosphoinositide 3-kinase (PI3K)/Akt/mammalian target of rapamycin (mTOR) pathway,PTENis deeply involved in cell growth, proliferation, and survival. This gene is also implicated in the modulation of the DNA damage response and in tumor immune microenvironment modeling. Despite the actionability ofPTENalterations, their role as biomarkers remains controversial in clinical practice. To date, there is still a substantial lack of validated guidelines and/or recommendations forPTENtesting. Here, we provide an update on the current state of knowledge on biologic and genetic alterations ofPTENacross the most frequent solid tumors, as well as on their actual and/or possible clinical applications. We focus on possible tailored schemes for cancer patients' clinical management, including risk assessment, diagnosis, prognostication, and treatment.
引用
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页码:1 / 19
页数:19
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