<i>PTEN</i> Alterations and Their Role in Cancer Management: Are We Making Headway on Precision Medicine?

Alterations in the tumor suppressor phosphatase and tensin homolog (<i>PTEN</i>) 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 targ...

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Main Authors: Nicola Fusco, Elham Sajjadi, Konstantinos Venetis, Gabriella Gaudioso, Gianluca Lopez, Chiara Corti, Elena Guerini Rocco, Carmen Criscitiello, Umberto Malapelle, Marco Invernizzi
Format: Article
Language:English
Published: MDPI AG 2020-06-01
Series:Genes
Subjects:
Online Access:https://www.mdpi.com/2073-4425/11/7/719
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author Nicola Fusco
Elham Sajjadi
Konstantinos Venetis
Gabriella Gaudioso
Gianluca Lopez
Chiara Corti
Elena Guerini Rocco
Carmen Criscitiello
Umberto Malapelle
Marco Invernizzi
author_facet Nicola Fusco
Elham Sajjadi
Konstantinos Venetis
Gabriella Gaudioso
Gianluca Lopez
Chiara Corti
Elena Guerini Rocco
Carmen Criscitiello
Umberto Malapelle
Marco Invernizzi
author_sort Nicola Fusco
collection DOAJ
description Alterations in the tumor suppressor phosphatase and tensin homolog (<i>PTEN</i>) 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, <i>PTEN</i> is 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 of <i>PTEN</i> alterations, their role as biomarkers remains controversial in clinical practice. To date, there is still a substantial lack of validated guidelines and/or recommendations for <i>PTEN</i> testing. Here, we provide an update on the current state of knowledge on biologic and genetic alterations of <i>PTEN</i> across 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.
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spelling doaj.art-c2d4e80ae9af468e9aa7c8de68dc13b62023-11-20T05:13:38ZengMDPI AGGenes2073-44252020-06-0111771910.3390/genes11070719<i>PTEN</i> Alterations and Their Role in Cancer Management: Are We Making Headway on Precision Medicine?Nicola Fusco0Elham Sajjadi1Konstantinos Venetis2Gabriella Gaudioso3Gianluca Lopez4Chiara Corti5Elena Guerini Rocco6Carmen Criscitiello7Umberto Malapelle8Marco Invernizzi9Department of Oncology and Hemato-Oncology, University of Milan, 20122 Milan, ItalyDivision of Pathology and Laboratory Medicine, IEO, European Institute of Oncology IRCCS, 20141 Milan, ItalyDepartment of Oncology and Hemato-Oncology, University of Milan, 20122 Milan, ItalyDivision of Pathology, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, 20131 Milan, ItalyDivision of Pathology, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, 20131 Milan, ItalyDivision of Pathology, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, 20131 Milan, ItalyDepartment of Oncology and Hemato-Oncology, University of Milan, 20122 Milan, ItalyNew Drugs and Early Drug Development for Innovative Therapies Division, IEO, European Institute of Oncology IRCCS, 20141 Milan, ItalyDepartment of Public Health, University Federico II, 80138 Naples, ItalyDepartment of Health Sciences, University of Eastern Piedmont, 28100 Novara, ItalyAlterations in the tumor suppressor phosphatase and tensin homolog (<i>PTEN</i>) 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, <i>PTEN</i> is 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 of <i>PTEN</i> alterations, their role as biomarkers remains controversial in clinical practice. To date, there is still a substantial lack of validated guidelines and/or recommendations for <i>PTEN</i> testing. Here, we provide an update on the current state of knowledge on biologic and genetic alterations of <i>PTEN</i> across 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.https://www.mdpi.com/2073-4425/11/7/719<i>PTEN</i>tumor suppressor<i>PI3K/Akt</i>cancersolid tumorstumor immune microenvironment
spellingShingle Nicola Fusco
Elham Sajjadi
Konstantinos Venetis
Gabriella Gaudioso
Gianluca Lopez
Chiara Corti
Elena Guerini Rocco
Carmen Criscitiello
Umberto Malapelle
Marco Invernizzi
<i>PTEN</i> Alterations and Their Role in Cancer Management: Are We Making Headway on Precision Medicine?
Genes
<i>PTEN</i>
tumor suppressor
<i>PI3K/Akt</i>
cancer
solid tumors
tumor immune microenvironment
title <i>PTEN</i> Alterations and Their Role in Cancer Management: Are We Making Headway on Precision Medicine?
title_full <i>PTEN</i> Alterations and Their Role in Cancer Management: Are We Making Headway on Precision Medicine?
title_fullStr <i>PTEN</i> Alterations and Their Role in Cancer Management: Are We Making Headway on Precision Medicine?
title_full_unstemmed <i>PTEN</i> Alterations and Their Role in Cancer Management: Are We Making Headway on Precision Medicine?
title_short <i>PTEN</i> Alterations and Their Role in Cancer Management: Are We Making Headway on Precision Medicine?
title_sort i pten i alterations and their role in cancer management are we making headway on precision medicine
topic <i>PTEN</i>
tumor suppressor
<i>PI3K/Akt</i>
cancer
solid tumors
tumor immune microenvironment
url https://www.mdpi.com/2073-4425/11/7/719
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