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Low-Grade Gliomas in Patients with Noonan Syndrome: Case-Based Review of the Literature

Authors :
Mariachiara Lodi
Luigi Boccuto
Andrea Carai
Antonella Cacchione
Evelina Miele
Giovanna Stefania Colafati
Francesca Diomedi Camassei
Luca De Palma
Alessandro De Benedictis
Elisabetta Ferretti
Giuseppina Catanzaro
Agnese Pò
Alessandro De Luca
Martina Rinelli
Francesca Romana Lepri
Emanuele Agolini
Marco Tartaglia
Franco Locatelli
Angela Mastronuzzi
Source :
Diagnostics, Vol 10, Iss 8, p 582 (2020)
Publication Year :
2020
Publisher :
MDPI AG, 2020.

Abstract

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.

Details

Language :
English
ISSN :
20754418
Volume :
10
Issue :
8
Database :
Directory of Open Access Journals
Journal :
Diagnostics
Publication Type :
Academic Journal
Accession number :
edsdoj.2024a8889ec04032ae9f11e02e41b239
Document Type :
article
Full Text :
https://doi.org/10.3390/diagnostics10080582