Genetics of Common Pediatric Brain Tumors

Malbari, Fatema; Lindsay, Holly

doi:10.1016/j.pediatrneurol.2019.08.004

Cited by 17 publications

(20 citation statements)

References 80 publications

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“…In this study, the authors did not find a correlation between SPM development and the applied treatment protocols. Rather, an association with genetic risk factors such as TP53 mutations, NF2, and Gorlin or Gardner syndrome has been described in line with the established causal relationship between the occurrence of multiple malignancies and various genetic syndromes in children with primary brain tumors [ 327 ]. Paugh et al [ 315 ] investigated 10 HGGs arising as an SPM in children who received cranial EBRT for a primary tumor with nucleotide polymorphism microarray analysis.…”

Section: Childhood Cancer and Second Primary Malignanciesmentioning

confidence: 99%

Childhood Cancer: Occurrence, Treatment and Risk of Second Primary Malignancies

Zahnreich

Schmidberger

2021

Cancers

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Cancer represents the leading cause of disease-related death and treatment-associated morbidity in children with an increasing trend in recent decades worldwide. Nevertheless, the 5-year survival of childhood cancer patients has been raised impressively to more than 80% during the past decades, primarily attributed to improved diagnostic technologies and multiagent cytotoxic regimens. This strong benefit of more efficient tumor control and prolonged survival is compromised by an increased risk of adverse and fatal late sequelae. Long-term survivors of pediatric tumors are at the utmost risk for non-carcinogenic late effects such as cardiomyopathies, neurotoxicity, or pneumopathies, as well as the development of secondary primary malignancies as the most detrimental consequence of genotoxic chemo- and radiotherapy. Promising approaches to reducing the risk of adverse late effects in childhood cancer survivors include high precision irradiation techniques like proton radiotherapy or non-genotoxic targeted therapies and immune-based treatments. However, to date, these therapies are rarely used to treat pediatric cancer patients and survival rates, as well as incidences of late effects, have changed little over the past two decades in this population. Here we provide an overview of the epidemiology and etiology of childhood cancers, current developments for their treatment, and therapy-related adverse late health consequences with a special focus on second primary malignancies.

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Section: Childhood Cancer and Second Primary Malignanciesmentioning

confidence: 99%

Childhood Cancer: Occurrence, Treatment and Risk of Second Primary Malignancies

Zahnreich

Schmidberger

2021

Cancers

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“…In the case of adolescents, CNS tumors are one the most common types of cancers, with high mortality rates [ 38 ]. Pediatric glioblastoma (pGBM) is characterized by slightly different properties and molecular patterns compared to that in adults.…”

Section: Characterization Of Selected Brain Tumorsmentioning

confidence: 99%

“…Hereditary germline mutations also have an impact on the development of pediatric low-grade gliomas. The variation in TSC or NF1—a tumor suppressor gene encoding neurofibromin (a protein involved in the RAS–MAPK signaling and mTOR pathways)—has also been determined [ 38 ].…”

Section: Characterization Of Selected Brain Tumorsmentioning

confidence: 99%

Non-Coding RNAs in Brain Tumors, the Contribution of lncRNAs, circRNAs, and snoRNAs to Cancer Development—Their Diagnostic and Therapeutic Potential

Latowska

Grabowska

Zarębska

et al. 2020

IJMS

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Brain tumors are one of the most frightening ailments that afflict human beings worldwide. They are among the most lethal of all adult and pediatric solid tumors. The unique cell-intrinsic and microenvironmental properties of neural tissues are some of the most critical obstacles that researchers face in the diagnosis and treatment of brain tumors. Intensifying the search for potential new molecular markers in order to develop new effective treatments for patients might resolve this issue. Recently, the world of non-coding RNAs (ncRNAs) has become a field of intensive research since the discovery of their essential impact on carcinogenesis. Some of the most promising diagnostic and therapeutic regulatory RNAs are long non-coding RNAs (lncRNAs), circular RNAs (circRNAs), and small nucleolar RNAs (snoRNAs). Many recent reports indicate the important role of these molecules in brain tumor development, as well as their implications in metastasis. In the following review, we summarize the current state of knowledge about regulatory RNAs, namely lncRNA, circRNAs, and snoRNAs, and their impact on the development of brain tumors in children and adults with particular emphasis on malignant primary brain tumors—gliomas and medulloblastomas (MB). We also provide an overview of how these different ncRNAs may act as biomarkers in these tumors and we present their potential clinical implications.

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“…4,5 Developments in molecular characterization and genetic profiling of pediatric brain tumors have led to improvements in risk stratification and associated treatment modification for these neoplasms. [6][7][8] For example, these methods now divide medulloblastoma into 4 molecular groups and 12 subgroups, which may be used for prediction of outcomes and stratification of treatment. 6,8 Deoxyribonucleic acid methylation profiling has been used to divide PF ependymomas into 3 molecular groups, posterior fossa type A/PF-ependymoma (EPN)-A (PFA), posterior fossa type B/ PF-EPN-B (PFB), and posterior fossa subependymoma/PF-subependymoma.…”

mentioning

confidence: 99%

“…[6][7][8] For example, these methods now divide medulloblastoma into 4 molecular groups and 12 subgroups, which may be used for prediction of outcomes and stratification of treatment. 6,8 Deoxyribonucleic acid methylation profiling has been used to divide PF ependymomas into 3 molecular groups, posterior fossa type A/PF-ependymoma (EPN)-A (PFA), posterior fossa type B/ PF-EPN-B (PFB), and posterior fossa subependymoma/PF-subependymoma. [9][10][11] PF-subependymoma tumors are rare adult subependymomas, and approximately 90% of PF ependymomas are from the PFA group.…”

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confidence: 99%

Anatomic Neuroimaging Characteristics of Posterior Fossa Type A Ependymoma Subgroups

Sabin¹,

Hwang²,

Klimo

et al. 2021

AJNR Am J Neuroradiol

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BACKGROUND AND PURPOSE: Posterior fossa type A (PFA) ependymomas have 2 molecular subgroups (PFA-1 and PFA-2) and 9 subtypes. Gene expression profiling suggests that PFA-1 and PFA-2 tumors have distinct developmental origins at different rostrocaudal levels of the brainstem. We, therefore, tested the hypothesis that PFA-1 and PFA-2 ependymomas have different anatomic MR imaging characteristics at presentation. MATERIALS AND METHODS:Two neuroradiologists reviewed the preoperative MR imaging examinations of 122 patients with PFA ependymomas and identified several anatomic characteristics, including extension through the fourth ventricular foramina and encasement of major arteries and tumor type (midfloor, roof, or lateral). Deoxyribonucleic acid methylation profiling assigned ependymomas to PFA-1 or PFA-2. Information on PFA subtype from an earlier study was also available for a subset of tumors. Associations between imaging variables and subgroup or subtype were evaluated. RESULTS:No anatomic imaging variable was significantly associated with the PFA subgroup, but 5 PFA-2c subtype ependymomas in the cohort had a more circumscribed appearance and showed less tendency to extend through the fourth ventricular foramina or encase blood vessels, compared with other PFA subtypes.CONCLUSIONS: PFA-1 and PFA-2 ependymomas did not have different anatomic MR imaging characteristics, and these results do not support the hypothesis that they have distinct anatomic origins. PFA-2c ependymomas appear to have a more anatomically circumscribed MR imaging appearance than the other PFA subtypes; however, this needs to be confirmed in a larger study.

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Genetics of Common Pediatric Brain Tumors

Cited by 17 publications

References 80 publications

Childhood Cancer: Occurrence, Treatment and Risk of Second Primary Malignancies

Childhood Cancer: Occurrence, Treatment and Risk of Second Primary Malignancies

Non-Coding RNAs in Brain Tumors, the Contribution of lncRNAs, circRNAs, and snoRNAs to Cancer Development—Their Diagnostic and Therapeutic Potential

Anatomic Neuroimaging Characteristics of Posterior Fossa Type A Ependymoma Subgroups

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