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Low-grade gliomas in patients with Noonan syndrome: case-based review of the literature

Low-grade gliomas in patients with Noonan syndrome: case-based review of the literature

Authors :
Elisabetta Ferretti
Francesca Diomedi Camassei
Francesca Romana Lepri
Giovanna Stefania Colafati
Emanuele Agolini
Marco Tartaglia
Evelina Miele
Alessandro De Luca
Franco Locatelli
Martina Rinelli
Angela Mastronuzzi
Mariachiara Lodi
Giuseppina Catanzaro
Alessandro De Benedictis
Luca De Palma
Andrea Carai
Antonella Cacchione
Luigi Boccuto
Agnese Po
Source :
Diagnostics, Vol 10, Iss 582, p 582 (2020), Diagnostics
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 RASā€“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
Database :
OpenAIRE
Journal :
Diagnostics, Vol 10, Iss 582, p 582 (2020), Diagnostics
Accession number :
edsair.doi.dedup.....5d35abe7ea6f75fffde734a27bdd066b