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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
- 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 RASāMAPK 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.
- Subjects :
- Pediatric brain tumor
Clinical Biochemistry
Case Report
Cancer predisposition
03 medical and health sciences
0302 clinical medicine
Germline mutation
medicine
cancer predisposition
everolimus
mtor signaling
noonan syndrome
pediatric brain tumor
Neoplasm
Noonan syndrome
Everolimus
PI3K/AKT/mTOR pathway
lcsh:R5-920
Cerebellar Pilocytic Astrocytoma
business.industry
medicine.disease
MTOR signaling
PTPN11
Leukemia
Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA
030220 oncology & carcinogenesis
Cancer research
lcsh:Medicine (General)
business
030217 neurology & neurosurgery
medicine.drug
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Journal :
- Diagnostics, Vol 10, Iss 582, p 582 (2020), Diagnostics
- Accession number :
- edsair.doi.dedup.....5d35abe7ea6f75fffde734a27bdd066b