The role of the immune system in neurofibromatosis type 1-associated nervous system tumors

Karmakar, Souvik; Reilly, Karlyne M.

doi:10.2217/cns-2016-0024

Cited by 28 publications

(30 citation statements)

References 150 publications

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“…Unfortunately, our register-based data do not allow dissecting whether the observed low HRs for T1D and T2D in NF1 are related to, for example, inflammation or metabolic activity. Previous data show NF1-associated alterations in the immune system, 41 and gene expression data from Schwann cells suggest association of NF1 gene dosage with HLA class II expression (NCBI GEO database, accession GSE32029), which may speak in favour of an inflammation-mediated mechanism. NF1 is known to affect especially the cells of the neural crest during development.…”

Section: Discussionmentioning

confidence: 95%

Haploinsufficiency of theNF1gene is associated with protection against diabetes

et al. 2020

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BackgroundThe hereditary predisposition to diabetes is only partially explained by genes identified so far. Neurofibromatosis type 1 (NF1) is a rare monogenic dominant syndrome caused by aberrations of the NF1 gene. Here, we used a cohort of 1410 patients with NF1 to study the association of the NF1 gene with type 1 (T1D) and type 2 diabetes (T2D).MethodsA total of 1410 patients were confirmed to fulfil the National Institutes of Health diagnostic criteria for NF1 by individually reviewing their medical records. The patients with NF1 were compared with 14 017 controls matched for age, sex and area of residence as well as 1881 non-NF1 siblings of the patients with NF1. Register-based information on purchases of antidiabetic medication and hospital encounters related to diabetes were retrieved. The Cox proportional hazards model was used to calculate the relative risk for diabetes in NF1.ResultsPatients with NF1 showed a lower rate of T2D when compared with a 10-fold control cohort (HR 0.27, 95% CI 0.17 to 0.43) or with their siblings without NF1 (HR 0.28, 95% CI 0.16 to 0.47). The estimates remained practically unchanged after adjusting the analyses for history of obesity and dyslipidaemias. The rate of T1D in NF1 was decreased although statistically non-significantly (HR 0.58, 95% CI 0.27 to 1.25).ConclusionHaploinsufficiency of the NF1 gene may protect against T2D and probably T1D. Since NF1 negatively regulates the Ras signalling pathway, the results suggest that the Ras pathway may be involved in the pathogenesis of diabetes.

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Section: Discussionmentioning

confidence: 95%

Haploinsufficiency of theNF1gene is associated with protection against diabetes

et al. 2020

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“…This treatment showed efficacy on LGG, and targeting NF1 NBS pHGG resulted in tumor regression [ 132 ]. NF1 tumors also exhibit increased immunological activity [ 133 ], which makes them more suitable for immune therapies.…”

Section: Molecular Nbs Phgg Targetsmentioning

confidence: 99%

Hemispherical Pediatric High-Grade Glioma: Molecular Basis and Therapeutic Opportunities

Haase

Nuñez

Gauss

et al. 2020

IJMS

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In this review, we discuss the molecular characteristics, development, evolution, and therapeutic perspectives for pediatric high-grade glioma (pHGG) arising in cerebral hemispheres. Recently, the understanding of biology of pHGG experienced a revolution with discoveries arising from genomic and epigenomic high-throughput profiling techniques. These findings led to identification of prevalent molecular alterations in pHGG and revealed a strong connection between epigenetic dysregulation and pHGG development. Although we are only beginning to unravel the molecular biology underlying pHGG, there is a desperate need to develop therapies that would improve the outcome of pHGG patients, as current therapies do not elicit significant improvement in median survival for this patient population. We explore the molecular and cell biology and clinical state-of-the-art of pediatric high-grade gliomas (pHGGs) arising in cerebral hemispheres. We discuss the role of driving mutations, with a special consideration of the role of epigenetic-disrupting mutations. We will also discuss the possibilities of targeting unique molecular vulnerabilities of hemispherical pHGG to design innovative tailored therapies.

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“…Of note, MC granules represent the main immunological source of histamine and Hdc −/− mice display several deficits in MC numbers, morphology and granular contents [55]. In addition, there are data supporting the contribution of MCs to tumor formation in the context of neurofibromatosis type 1 [56].…”

Section: Conclusion and Future Perspectivesmentioning

confidence: 99%

Allergic Signs in Glioma Pathology: Current Knowledge and Future Perspectives

Costanza

Finocchiaro

2019

Cancers

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Historically restrained to immune defense against parasite infections, allergic inflammation has been recently rediscovered to protect from a wide array of environmental triggers, such as xenobiotics and carcinogens, which can induce DNA damage and ultimately lead to cancer development. Moreover, cells and mediators typical of allergic responses can importantly modulate the tissue inflammatory milieu, which represents a crucial gatekeeper towards the acquisition of malignancy by cancer cells through immune escape. Numerous studies have described an inverse association between allergies and glioma development. Mast cells, key players of allergic reactions, have been recently found at increased numbers in glioblastoma multiforme (GBM), the most common and lethal primary brain tumor, and they have been implicated in GBM pathogenesis. In this review, we summarize epidemiological studies and discuss the main evidence highlighting a potential interplay between allergic responses, and glioma formation and progression. Last, we draw future lines of research for better clarification whether and through which mechanisms allergic inflammation might impact on gliomagenesis. The comprehension of the immune mechanisms favoring or counteracting tumor growth might open the path to novel immunotherapy approaches.

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The role of the immune system in neurofibromatosis type 1-associated nervous system tumors

Cited by 28 publications

References 150 publications

Haploinsufficiency of theNF1gene is associated with protection against diabetes

Haploinsufficiency of theNF1gene is associated with protection against diabetes

Hemispherical Pediatric High-Grade Glioma: Molecular Basis and Therapeutic Opportunities

Allergic Signs in Glioma Pathology: Current Knowledge and Future Perspectives

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