Neurofibromatosis type 1 associated low grade gliomas: A comparison with sporadic low grade gliomas

Helfferich, Jelte; Nijmeijer, Ronald; Brouwer, Oebele F.; Boon, Maartje; Fock, Annemarie; Hoving, Eelco W.; Meijer, Lisethe; Dunnen, Wilfred F.A. den; Bont, Eveline S.J.M. de

doi:10.1016/j.critrevonc.2016.05.008

Cited by 88 publications

(76 citation statements)

References 130 publications

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“…In NF1 children, the vast majority of brain tumours are WHO grade I pilocytic astrocytomas, primarily OPGs. NF1-associated pilocytic astrocytomas and OPG have a particularly benign behaviour and hardly ever develop into life-threatening disease (10,68,69). There are, however, also a few case reports (70-72) and retrospective clinical-pathological studies (73)(74)(75) that report a possible association of childhood high-grade (WHO III or IV) CNS tumours and NF1.…”

Section: Potential Impact Of Cmmrd On Our Current Knowledge Of Nf1-asmentioning

confidence: 99%

Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1

2017

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Constitutional mismatch repair (MMR) deficiency (CMMRD) is a rare childhood cancer susceptibility syndrome resulting from biallelic germline loss-of-function mutations in one of the MMR genes. Individuals with CMMRD have high risk to develop a broad spectrum of malignancies and frequently display features reminiscent of neurofibromatosis type 1 (NF1). Evaluation of the clinical findings of genetically proven CMMRD patients shows that not only multiple café-au-lait macules but also any of the diagnostic features of NF1 may be present in a CMMRD patient. This phenotypic overlap may lead to misdiagnosis of CMMRD patients as having NF1, which impedes adequate management of the patients and their families. The spectrum of CMMRD-associated childhood malignancies includes high-grade glioma, acute myeloid leukaemia or rhabdomyosarcoma, also reported as associated with NF1. Reported associations between NF1 and these malignancies are to a large extent based on studies that neither proved the presence of an NF1 germline mutation nor ruled-out CMMRD in the affected. Hence, these associations are challenged by our current knowledge of the phenotypic overlap between NF1 and CMMRD and should be re-evaluated in future studies. Recent advances in the diagnostics of CMMRD should render it possible to definitely state or refute this diagnosis in these individuals.

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Section: Potential Impact Of Cmmrd On Our Current Knowledge Of Nf1-asmentioning

confidence: 99%

Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1

2017

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“…The Ras/ERK pathway is also involved in cell differentiation responsible for slow tumour growth. Mechanisms of tumourigenesis in low-grade gliomas with and without NF1 are different, including the different signalling pathways and tumour microenvironment [38].…”

Section: Molecular Findingsmentioning

confidence: 99%

Heterogeneity of histopathological presentation of pilocytic astrocytoma – diagnostic pitfalls. A review

Matyja

Grajkowska²,

Stępień³

et al. 2016

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“…A new kind of glioma treatment, popularly known as "case by case" treatment is where gliomaassociated secondary disease such as neurofibromatosis type 1 (associated with astrocytoma) and tuberous sclerosis (associated with giant cell glioblastoma) are treated in context to the primary glioma lesion to soothe patients at to greater extent [144,145] .…”

Section: Against the Odds: Where Do We Stand And What Is The Future?mentioning

confidence: 99%

Glia to glioma: A wrathful journey

Ghosh¹,

Bhattacharjee

Ghosh

et al. 2017

Adv Mod Oncol Res

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Glial cells, unlike neurons in the brain, can undergo cellular division to maintain their functional continuity. However, sometimes this divisional attribute gets uncontrolled, which breaches tissue organization and transforms tissues into neoplasm. The proliferative abnormality of neuroglia results in one of the most dreaded neoplasm accounting for about 30% of all brain tumors-the glioma. The abnormal proliferation, high level of progression and invasive potential makes glioma one of the most lethal killers in its class. The pathological scenario becomes more moribund owing to poor prognosis and high mortality rate of the menace. Conventional onco-therapies yield dismal results compared to other soft tissue tumors. In time, with the advent of newer trends of prognosis and treatment modalities in the field of oncology, a hope for betterment is expected, but not yet achieved. These advancements would fetch some better results with proper and minute understanding of the biology of glioma, both at physiological as well as molecular level. In the present context, we have tried to document an insight to glioma biology that can serve as a primer to understand this lethal killer and its killing spree, with some approaches to combat its carnage.

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Neurofibromatosis type 1 associated low grade gliomas: A comparison with sporadic low grade gliomas

Cited by 88 publications

References 130 publications

Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1

Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1

Heterogeneity of histopathological presentation of pilocytic astrocytoma – diagnostic pitfalls. A review

Glia to glioma: A wrathful journey

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