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Low-Grade Gliomas in Patients with Noonan Syndrome: Case-Based Review of the Literature
Noonan syndrome (NS) is a congenital autosomic dominant condition characterized by a variable spectrum from a clinical and genetical point of view. Germline mutations in more than ten genes involved in RAS–MAPK signal pathway have been demonstrated to cause the disease. An higher risk for leukemia a...
Autores principales: | , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7460327/ https://www.ncbi.nlm.nih.gov/pubmed/32806529 http://dx.doi.org/10.3390/diagnostics10080582 |
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author | Lodi, Mariachiara Boccuto, Luigi Carai, Andrea Cacchione, Antonella Miele, Evelina Colafati, Giovanna Stefania Diomedi Camassei, Francesca De Palma, Luca De Benedictis, Alessandro Ferretti, Elisabetta Catanzaro, Giuseppina Pò, Agnese De Luca, Alessandro Rinelli, Martina Lepri, Francesca Romana Agolini, Emanuele Tartaglia, Marco Locatelli, Franco Mastronuzzi, Angela |
author_facet | Lodi, Mariachiara Boccuto, Luigi Carai, Andrea Cacchione, Antonella Miele, Evelina Colafati, Giovanna Stefania Diomedi Camassei, Francesca De Palma, Luca De Benedictis, Alessandro Ferretti, Elisabetta Catanzaro, Giuseppina Pò, Agnese De Luca, Alessandro Rinelli, Martina Lepri, Francesca Romana Agolini, Emanuele Tartaglia, Marco Locatelli, Franco Mastronuzzi, Angela |
author_sort | Lodi, Mariachiara |
collection | PubMed |
description | Noonan syndrome (NS) is a congenital autosomic dominant condition characterized by a variable spectrum from a clinical and genetical point of view. Germline mutations in more than ten genes involved in RAS–MAPK signal pathway have been demonstrated to cause the disease. An higher risk for leukemia and solid malignancies, including brain tumors, is related to NS. A review of the published literature concerning low grade gliomas (LGGs) in NS is presented. We described also a 13-year-old girl with NS associated with a recurrent mutation in PTPN11, who developed three different types of brain tumors, i.e., an optic pathway glioma, a glioneuronal neoplasm of the left temporal lobe and a cerebellar pilocytic astrocytoma. Molecular characterization of the glioneuronal tumor allowed to detect high levels of phosphorylated MTOR (pMTOR); therefore, a therapeutic approach based on an mTOR inhibitor (everolimus) was elected. The treatment was well tolerated and proved to be effective, leading to a stabilization of the tumor, which was surgical removed. The positive outcome of the present case suggests considering this approach for patients with RASopathies and brain tumors with hyperactivated MTOR signaling. |
format | Online Article Text |
id | pubmed-7460327 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-74603272020-09-02 Low-Grade Gliomas in Patients with Noonan Syndrome: Case-Based Review of the Literature Lodi, Mariachiara Boccuto, Luigi Carai, Andrea Cacchione, Antonella Miele, Evelina Colafati, Giovanna Stefania Diomedi Camassei, Francesca De Palma, Luca De Benedictis, Alessandro Ferretti, Elisabetta Catanzaro, Giuseppina Pò, Agnese De Luca, Alessandro Rinelli, Martina Lepri, Francesca Romana Agolini, Emanuele Tartaglia, Marco Locatelli, Franco Mastronuzzi, Angela Diagnostics (Basel) Case Report Noonan syndrome (NS) is a congenital autosomic dominant condition characterized by a variable spectrum from a clinical and genetical point of view. Germline mutations in more than ten genes involved in RAS–MAPK signal pathway have been demonstrated to cause the disease. An higher risk for leukemia and solid malignancies, including brain tumors, is related to NS. A review of the published literature concerning low grade gliomas (LGGs) in NS is presented. We described also a 13-year-old girl with NS associated with a recurrent mutation in PTPN11, who developed three different types of brain tumors, i.e., an optic pathway glioma, a glioneuronal neoplasm of the left temporal lobe and a cerebellar pilocytic astrocytoma. Molecular characterization of the glioneuronal tumor allowed to detect high levels of phosphorylated MTOR (pMTOR); therefore, a therapeutic approach based on an mTOR inhibitor (everolimus) was elected. The treatment was well tolerated and proved to be effective, leading to a stabilization of the tumor, which was surgical removed. The positive outcome of the present case suggests considering this approach for patients with RASopathies and brain tumors with hyperactivated MTOR signaling. MDPI 2020-08-12 /pmc/articles/PMC7460327/ /pubmed/32806529 http://dx.doi.org/10.3390/diagnostics10080582 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Case Report Lodi, Mariachiara Boccuto, Luigi Carai, Andrea Cacchione, Antonella Miele, Evelina Colafati, Giovanna Stefania Diomedi Camassei, Francesca De Palma, Luca De Benedictis, Alessandro Ferretti, Elisabetta Catanzaro, Giuseppina Pò, Agnese De Luca, Alessandro Rinelli, Martina Lepri, Francesca Romana Agolini, Emanuele Tartaglia, Marco Locatelli, Franco Mastronuzzi, Angela Low-Grade Gliomas in Patients with Noonan Syndrome: Case-Based Review of the Literature |
title | Low-Grade Gliomas in Patients with Noonan Syndrome: Case-Based Review of the Literature |
title_full | Low-Grade Gliomas in Patients with Noonan Syndrome: Case-Based Review of the Literature |
title_fullStr | Low-Grade Gliomas in Patients with Noonan Syndrome: Case-Based Review of the Literature |
title_full_unstemmed | Low-Grade Gliomas in Patients with Noonan Syndrome: Case-Based Review of the Literature |
title_short | Low-Grade Gliomas in Patients with Noonan Syndrome: Case-Based Review of the Literature |
title_sort | low-grade gliomas in patients with noonan syndrome: case-based review of the literature |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7460327/ https://www.ncbi.nlm.nih.gov/pubmed/32806529 http://dx.doi.org/10.3390/diagnostics10080582 |
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