Rosette-forming glioneuronal tumour of the lateral ventricle in a patient with neurofibromatosis 1

Kemp, S.; Achan, Anita; Ng, Tsz Wai; Dexter, Mark

doi:10.1016/j.jocn.2011.12.013

Cited by 18 publications

(10 citation statements)

References 8 publications

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“…Interestingly, five cases (including one in the current series) had concomitant neurofibromatosis type I [ 23 , 28 – 30 ], and this might not be purely accidental as proposed in a previous study. The definitive association needs further genetic analysis.…”

Section: Discussionsupporting

confidence: 52%

Histopathological, molecular, clinical and radiological characterization of rosette-forming glioneuronal tumor in the central nervous system

Yang

Fang

et al. 2017

Oncotarget

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ObjectiveA rosette-forming glioneuronal tumor (RGNT) is a rare entity originally described in the fourth ventricle. Recently, RGNTs occurring in extraventricular sites and those with malignant behaviors have been reported. The purpose of this study was to analyze the clinicoradiological and histopathological features, therapeutic strategies, and outcomes of RGNTs.MethodsWe enrolled 38 patients diagnosed with RGNTs pathologically between August 2009 and June 2016. CT and MRI, including diffusion-weighted imaging and spectroscopy, were performed. The surgical treatment and histopathological and molecular features were assessed. Additionally, we searched the relevant literatures and performed a pooled analysis of individual patient data. The potential risk factors of prognosis were analyzed.ResultsOur case series included 22 male and 16 female patients, with a mean age of 25.9 years. RGNTs involved the fourth ventricle (26.3%), cerebella (34.2%), supratentorial ventricular system (13.2%), spinal cord (10.5%), temporal lobe (10.5%), thalamus (7.9%), brain stem (7.9%), frontal lobe (5.3%), pineal region (5.3%), suprasellar region (2.6%), and basal ganglia (2.6%). Statistical analyses showed that pediatric age, purely solid appearance of the tumor, and inadequate resection (only partial removal or biopsy) were risk factors associated with progression events. Patients with subtotal resection appeared to do as well as those with gross total resection.ConclusionsRGNTs can occur nearly anywhere in the CNS, at both supratentorial and infratentorial sites. Maximal safe surgical resection should be emphasized for treatment; whilst aggressive resection with the goal of complete resection may be unnecessary.

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Section: Discussionsupporting

confidence: 52%

Histopathological, molecular, clinical and radiological characterization of rosette-forming glioneuronal tumor in the central nervous system

Yang

Fang

et al. 2017

Oncotarget

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“…Although there is no certain association with hereditary syndromes, RGNT has been described in patients with neurofibromatosis type 1 [13], as well as Noonan syndrome [12,16]. None of the NF1 mutations in our cohort could be confirmed as being present in the germline, although only very few cases had germline material available.…”

Section: Discussionmentioning

confidence: 68%

Rosette-forming glioneuronal tumors share a distinct DNA methylation profile and mutations in FGFR1, with recurrent co-mutation of PIK3CA and NF1

et al. 2019

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Rosette-forming glioneuronal tumor (RGNT) is a rare brain neoplasm that primarily affects young adults. Although alterations affecting the mitogen-activated protein kinase (MAPK) and phosphoinositide 3-kinase (PI3K) signaling pathway have been associated with this lowgrade glioneuronal entity, comprehensive molecular investigations of RGNT in larger series have not been performed to date, and an integrated view of their genetic and epigenetic profiles is still lacking. Here we describe a genome-wide DNA methylation and targeted sequencing-based characterization of a molecularly distinct class of tumors (n = 30), initially identified through genome-wide DNA methylation screening amongst a cohort of > 30,000 tumors, of which most were diagnosed histologically as RGNT. FGFR1 hotspot mutations were observed in all tumors analyzed, with co-occurrence of PIK3CA mutations in about two thirds of the cases (63%). Additional loss-of-function mutations in the tumor suppressor gene NF1 were detected in a subset of cases (33%). Notably, in contrast to most other low-grade gliomas, these tumors often displayed co-occurrence of two or even all three of these mutations. Our data highlight that molecularly defined RGNTs are characterized by combined genetic alterations affecting both MAPK and PI3K signaling pathways. Thus, these two pathways appear to synergistically interact in the formation of RGNT, and offer potential therapeutic targets for this disease.

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“…Additionally, a few cases have been found in association with neurofibromatosis type 1, 7 , 45 , 68 as well as 2 with Noonan syndrome 44 , 51 and 1 with multiple sclerosis. 70 Interestingly, there was one case that presented 4 months after a grade II diffuse astrocytoma.…”

Section: Discussionmentioning

confidence: 99%

Rosette-forming glioneuronal tumor: an illustrative case and a systematic review

Wilson

Chakraborty

Pelargos

et al. 2020

Neuro-Oncology Advances

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Background Rosette-forming glioneuronal tumors (RGNTs) are rare, low-grade, primary central nervous system tumors first described in 2002 by Komori et al. RGNTs were initially characterized as WHO grade I tumors typically localized to the fourth ventricle. Although commonly associated with an indolent course, RGNTs have the potential for aggressive behavior. Methods A comprehensive search of PubMed and Web of Science was performed through November 2019 using the search term “rosette-forming glioneuronal tumor.” Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines were followed. English, full-text case reports and series with histopathological confirmation were included. Patient demographics, presentations, magnetic resonance imaging (MRI) features, tumor location, treatment, and follow-up of all 130 cases were extracted. Results : Case Report:A 19-year-old man with a history of epilepsy and autism presented with acute hydrocephalus. MRI scans from 2013 and 2016 demonstrated unchanged abnormal areas of cortex in the left temporal lobe with extension into the deep gray-white matter. On presentation to our clinic in 2019, the lesion demonstrated significant progression. The patient’s tumor was identified as RGNT, WHO grade I, Systematic Review:130 patients were identified across 80 studies. Conclusion RGNT has potential to transform from an indolent tumor to a tumor with more aggressive behavior. The results of our systematic review provide insight into the natural history and treatment outcomes of these rare tumors

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Rosette-forming glioneuronal tumour of the lateral ventricle in a patient with neurofibromatosis 1

Cited by 18 publications

References 8 publications

Histopathological, molecular, clinical and radiological characterization of rosette-forming glioneuronal tumor in the central nervous system

Histopathological, molecular, clinical and radiological characterization of rosette-forming glioneuronal tumor in the central nervous system

Rosette-forming glioneuronal tumors share a distinct DNA methylation profile and mutations in FGFR1, with recurrent co-mutation of PIK3CA and NF1

Rosette-forming glioneuronal tumor: an illustrative case and a systematic review

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