Optic Pathway Gliomas in Neurofibromatosis Type 1

Campen, Cynthia J.; Gutmann, David H.

doi:10.1177/0883073817739509

Cited by 128 publications

(122 citation statements)

References 82 publications

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“…Neurofibromatosis Type I (NF1) is the most common inheritable tumor predisposition syndrome worldwide and is associated with a wide range of clinical manifestations including skin pigmentation abnormalities, learning disabilities, seizures, and vasculopathies [16,19]. NF1 is caused by a germline mutation in the NF1 tumor suppressor gene, which encodes neurofibromin, a GTPase-activating protein that functions as a negative regulator RAS [61,89,177].…”

Section: Neurofibromatosis Typementioning

confidence: 99%

Pediatric low-grade glioma in the era of molecular diagnostics

Ryall

Tabori

Hawkins

2020

acta neuropathol commun

238

251

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Low grade gliomas are the most frequent brain tumors in children and encompass a spectrum of histologic entities which are currently assigned World Health Organisation grades I and II. They differ substantially from their adult counterparts in both their underlying genetic alterations and in the infrequency with which they transform to higher grade tumors. Nonetheless, children with low grade glioma are a therapeutic challenge due to the heterogeneity in their clinical behaviorin particular, those with incomplete surgical resection often suffer repeat progressions with resultant morbidity and, in some cases, mortality. The identification of up-regulation of the RAS-mitogen-activated protein kinase (RAS/MAPK) pathway as a near universal feature of these tumors has led to the development of targeted therapeutics aimed at improving responses while mitigating patient morbidity. Here, we review how molecular information can help to further define the entities which fall under the umbrella of pediatric-type low-grade glioma. In doing so we discuss the specific molecular drivers of pediatric low grade glioma and how to effectively test for them, review the newest therapeutic agents and their utility in treating this disease, and propose a risk-based stratification system that considers both clinical and molecular parameters to aid clinicians in making treatment decisions.

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Section: Neurofibromatosis Typementioning

confidence: 99%

Pediatric low-grade glioma in the era of molecular diagnostics

Ryall

Tabori

Hawkins

2020

acta neuropathol commun

238

251

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“…They consequently need periodic monitoring in order to minimise the risk of serious medical complications [14]. About 15%-20% of patients develop low-grade glial tumours, 80% of which involve the optic pathway [15].…”

Section: Introductionmentioning

confidence: 99%

“…Optic pathway glioma (OPG), a predominantly World Health Organisation (WHO) grade I astrocytoma, is one of the diagnostic criteria for NF1 and the most frequently identified brain tumour in NF1 children [1,15]. In NF1 children aged <7 years, it can arise anywhere along the optic pathway from the retro-orbital optic nerve to the post-chiasmatic optic traits and radiations.…”

Section: Introductionmentioning

confidence: 99%

Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype–Phenotype Correlations in a Large Independent Cohort

Melloni

Eoli

Cesaretti

et al. 2019

Cancers

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The occurrence of optic pathway gliomas (OPGs) in children with neurofibromatosis type 1 (NF1) still raises many questions regarding screening and surveillance because of the lack of robust prognostic factors. Recent studies of an overall cohort of 381 patients have suggested that the genotype may be the main determinant of the development of OPG, with the risk being higher in patients harbouring NF1 mutations in the 5’ tertile and the cysteine/serine-rich domain. In an attempt to confirm this hypothesis, we used strict criteria to select a large independent cohort of 309 NF1 patients with defined constitutional NF1 mutations and appropriate brain images (255 directly enrolled and 54 as a result of a literature search). One hundred and thirty-two patients had OPG and 177 did not. The association of the position (tertiles and functional domains) and type of NF1 mutation with the development of OPG was analysed using the χ2 test and Fisher’s exact probability test; odds ratios (ORs) with 95% confidence intervals were calculated, and Bonferroni’s correction for multiple comparisons was applied; multiple logistic regression was also used to study genotype–phenotype associations further. Our findings show no significant correlation between the site/type of NF1 mutation and the risk of OPG, and thus do not support the hypothesis that certain constitutional mutations provide prognostic information in this regard. In addition, we combined our cohort with a previously described cohort of 381 patients for a total of 690 patients and statistically re-analysed the results. The re-analysis confirmed that there were no correlations between the site (tertile and domain) and the risk of OPG, thus further strengthening our conclusions.

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“…However, 8–34% of patients with NF-1 have a final adult height of –2 SD, apparently due to a lower peak height velocity during adolescence [70, 71]. Approximately 15–20% of children with NF-1 develop an optic pathway tumor, and in some cases these tumors are associated with precocious puberty which may result in a short adult height due to premature fusion of the growth plates [72]. Noonan syndrome patients with PTPN11 mutations appear to be more growth impaired at birth as well as at the final adult height, while those with KRAS mutations may be larger for age and possibly macrosomic at birth [75].…”

Section: Growth Impairment In Cancer Predisposition Syndromesmentioning

confidence: 99%

Growth Disturbances in Childhood Cancer Survivors

Antal

Balachandar

2019

Horm Res Paediatr

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Survival from childhood cancer has improved dramatically over the last few decades, resulting in an increased need to address the long-term follow-up and care of childhood cancer survivors. Appropriate linear growth is an important measure of health, with alterations of growth in children and short adult height in those who have completed growth serving as potential indicators of the sequelae of the underlying diagnosis or the cancer treatments. It is therefore critical that clinicians, particularly endocrinologists, be familiar with the patterns of altered growth which may be seen following diagnosis and treatment for childhood cancer. In this article, we will review the growth alterations seen in childhood cancer survivors, focusing on risk factors and considerations in evaluation and care.

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Optic Pathway Gliomas in Neurofibromatosis Type 1

Cited by 128 publications

References 82 publications

Pediatric low-grade glioma in the era of molecular diagnostics

Pediatric low-grade glioma in the era of molecular diagnostics

Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype–Phenotype Correlations in a Large Independent Cohort

Growth Disturbances in Childhood Cancer Survivors

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