Pediatric High Grade Glioma Classification Criteria and Molecular Features of a Case Series
Pediatric high-grade gliomas (pHGGs) encompass a heterogeneous group of tumors. Three main molecular types (<i>H3.3</i> mutant, <i>IDH</i> mutant, and <i>H3.3/IDH</i> wild-type) and a number of subtypes have been identified. We provide an overview of pHGGs and pre...
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| Format: | Article |
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MDPI AG
2022-03-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/13/4/624 |
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| author | Anna Maria Buccoliero Laura Giunti Selene Moscardi Francesca Castiglione Aldesia Provenzano Iacopo Sardi Mirko Scagnet Lorenzo Genitori Chiara Caporalini |
| author_facet | Anna Maria Buccoliero Laura Giunti Selene Moscardi Francesca Castiglione Aldesia Provenzano Iacopo Sardi Mirko Scagnet Lorenzo Genitori Chiara Caporalini |
| author_sort | Anna Maria Buccoliero |
| collection | DOAJ |
| description | Pediatric high-grade gliomas (pHGGs) encompass a heterogeneous group of tumors. Three main molecular types (<i>H3.3</i> mutant, <i>IDH</i> mutant, and <i>H3.3/IDH</i> wild-type) and a number of subtypes have been identified. We provide an overview of pHGGs and present a mono-institutional series. We studied eleven non-related pHGG samples through a combined approach of routine diagnostic tools and a gene panel. <i>TP53</i> and <i>H3F3A</i> were the most mutated genes (six patients each, 54%). The third most mutated gene was <i>EGFR</i> (three patients, 27%), followed by <i>PDGFRA</i> and <i>PTEN</i> (two patients each, 18%). Variants in the <i>EZHIP</i>, <i>MSH2</i>, <i>IDH1</i>, <i>IDH2</i>, <i>TERT</i>, <i>HRAS</i>, <i>NF1</i>, <i>BRAF</i>, <i>ATRX</i>, and <i>PIK3CA</i> genes were relatively infrequent (one patient each, 9%). In one case, gene panel analysis documented the presence of a pathogenic <i>IDH2</i> variant (c.419G>A, p.Arg140Gln) never described in gliomas. More than one-third of patients carry a variant in a gene associated with tumor-predisposing syndromes. The absence of constitutional DNA did not allow us to identify their constitutional origin. |
| first_indexed | 2024-03-09T10:36:47Z |
| format | Article |
| id | doaj.art-eb021aed75c842c0be8a5ec09ff61977 |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-09T10:36:47Z |
| publishDate | 2022-03-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-eb021aed75c842c0be8a5ec09ff619772023-12-01T20:56:57ZengMDPI AGGenes2073-44252022-03-0113462410.3390/genes13040624Pediatric High Grade Glioma Classification Criteria and Molecular Features of a Case SeriesAnna Maria Buccoliero0Laura Giunti1Selene Moscardi2Francesca Castiglione3Aldesia Provenzano4Iacopo Sardi5Mirko Scagnet6Lorenzo Genitori7Chiara Caporalini8Pathology Unit, Meyer Children’s Hospital, 50139 Florence, ItalyNeuro-Oncology Unit, Department of Pediatric Oncology, Meyer Children’s Hospital, 50139 Florence, ItalyPathology Unit, Meyer Children’s Hospital, 50139 Florence, ItalyPathological Anatomy, Careggi Hospital, 50139 Florence, ItalyMedical Genetics, Department of Experimental and Clinical Biomedical Sciences Mario Serio, University of Florence, 50139 Florence, ItalyNeuro-Oncology Unit, Department of Pediatric Oncology, Meyer Children’s Hospital, 50139 Florence, ItalyNeurosurgery Unit, Meyer Children’s Hospital, 50139 Florence, ItalyNeurosurgery Unit, Meyer Children’s Hospital, 50139 Florence, ItalyPathology Unit, Meyer Children’s Hospital, 50139 Florence, ItalyPediatric high-grade gliomas (pHGGs) encompass a heterogeneous group of tumors. Three main molecular types (<i>H3.3</i> mutant, <i>IDH</i> mutant, and <i>H3.3/IDH</i> wild-type) and a number of subtypes have been identified. We provide an overview of pHGGs and present a mono-institutional series. We studied eleven non-related pHGG samples through a combined approach of routine diagnostic tools and a gene panel. <i>TP53</i> and <i>H3F3A</i> were the most mutated genes (six patients each, 54%). The third most mutated gene was <i>EGFR</i> (three patients, 27%), followed by <i>PDGFRA</i> and <i>PTEN</i> (two patients each, 18%). Variants in the <i>EZHIP</i>, <i>MSH2</i>, <i>IDH1</i>, <i>IDH2</i>, <i>TERT</i>, <i>HRAS</i>, <i>NF1</i>, <i>BRAF</i>, <i>ATRX</i>, and <i>PIK3CA</i> genes were relatively infrequent (one patient each, 9%). In one case, gene panel analysis documented the presence of a pathogenic <i>IDH2</i> variant (c.419G>A, p.Arg140Gln) never described in gliomas. More than one-third of patients carry a variant in a gene associated with tumor-predisposing syndromes. The absence of constitutional DNA did not allow us to identify their constitutional origin.https://www.mdpi.com/2073-4425/13/4/624pediatrichigh-grade gliomaastrocytomathalamic gliomagene panel<i>IDH2</i> mutation |
| spellingShingle | Anna Maria Buccoliero Laura Giunti Selene Moscardi Francesca Castiglione Aldesia Provenzano Iacopo Sardi Mirko Scagnet Lorenzo Genitori Chiara Caporalini Pediatric High Grade Glioma Classification Criteria and Molecular Features of a Case Series Genes pediatric high-grade glioma astrocytoma thalamic glioma gene panel <i>IDH2</i> mutation |
| title | Pediatric High Grade Glioma Classification Criteria and Molecular Features of a Case Series |
| title_full | Pediatric High Grade Glioma Classification Criteria and Molecular Features of a Case Series |
| title_fullStr | Pediatric High Grade Glioma Classification Criteria and Molecular Features of a Case Series |
| title_full_unstemmed | Pediatric High Grade Glioma Classification Criteria and Molecular Features of a Case Series |
| title_short | Pediatric High Grade Glioma Classification Criteria and Molecular Features of a Case Series |
| title_sort | pediatric high grade glioma classification criteria and molecular features of a case series |
| topic | pediatric high-grade glioma astrocytoma thalamic glioma gene panel <i>IDH2</i> mutation |
| url | https://www.mdpi.com/2073-4425/13/4/624 |
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