Rosette-forming glioneuronal tumour (RGNT) of the fourth ventricle: a highly aggressive case

Cabezas, S. García; Blanch, Raquel Serrano; Sánchez‐Sánchez, Rafael; Eito, A. Palacios

doi:10.1007/s10014-014-0195-z

Cited by 34 publications

(15 citation statements)

References 15 publications

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“…The SLC44A1‐PRKCA fusion, which is frequently observed in PGNTs, was not detected in the two RGNTs tested in the previous work . The hallmarks of diffuse glioma, namely IDH1/2 mutation and 1p/19q codeletion, were absent in all tested cases, according to previous reports, as well as in the present study .…”

Section: Discussionsupporting

confidence: 82%

Comprehensive genetic characterization of rosette‐forming glioneuronal tumors: independent component analysis by tissue microdissection

et al. 2017

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A rosette-forming glioneuronal tumor (RGNT) is a rare mixed neuronal-glial tumor characterized by biphasic architecture of glial and neurocytic components. The number of reports of genetic analyses of RGNTs is few. Additionally, the genetic background of the unique biphasic pathological characteristics of such mixed neuronal-glial tumors remains unclear. To clarify the genetic background of RGNTs, we performed separate comprehensive genetic analyses of glial and neurocytic components of five RGNTs, by tissue microdissection. Two missense mutations in FGFR1 in both components of two cases, and one mutation in PIK3CA in both components of one case, were detected. In the latter case with PIK3CA mutation, the additional FGFR1 mutation was detected only in the glial component. Moreover, the loss of chromosome 13q in only the neurocytic component was observed in one other case. Their results suggested that RGNTs, which are tumors harboring two divergent differentiations that arose from a single clone, have a diverse genetic background. Although previous studies have suggested that RGNTs and pilocytic astrocytomas (PAs) represent the same tumor entity, their results confirm that the genetic background of RGNTs is not identical to that of PA.

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Section: Discussionsupporting

confidence: 82%

Comprehensive genetic characterization of rosette‐forming glioneuronal tumors: independent component analysis by tissue microdissection

et al. 2017

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“…This study describes for the first time a comprehensive genetic characterization of a case of RGNT of the fourth ventricle arising in the spinal cord. This is not the usual presentation, yet it has been previously reported [ 17 , 18 ]. The MRI images showed a relatively well-demarcated lesion, with low and high intensities in T1 and T2, respectively, which corroborate findings of other studies [ 8 , 17 , 18 ].…”

Section: Discussionmentioning

confidence: 67%

Molecular Profiling of a Rare Rosette-Forming Glioneuronal Tumor Arising in the Spinal Cord

et al. 2015

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Rosette-forming glioneuronal tumor (RGNT) of the IV ventricle is a rare and recently recognized brain tumor entity. It is histologically composed by two distinct features: a glial component, resembling pilocytic astrocytoma, and a component forming neurocytic rosettes and/or perivascular rosettes. Herein, we describe a 33-year-old man with RGNT arising in the spinal cord. Following an immunohistochemistry validation, we further performed an extensive genomic analysis, using array-CGH (aCGH), whole exome and cancer-related hotspot sequencing, in order to better understand its underlying biology. We observed the loss of 1p and gain of 1q, as well as gain of the whole chromosomes 7, 9 and 16. Local amplifications in 9q34.2 and 19p13.3 (encompassing the gene SBNO2) were identified. Moreover, we observed focal gains/losses in several chromosomes. Additionally, on chromosome 7, we identified the presence of the KIAA1549:BRAF gene fusion, which was further validated by RT-PCR and FISH. Across all mutational analyses, we detected and validated the somatic mutations of the genes MLL2, CNNM3, PCDHGC4 and SCN1A. Our comprehensive molecular profiling of this RGNT suggests that MAPK pathway and methylome changes, driven by KIAA1549:BRAF fusion and MLL2 mutation, respectively, could be associated with the development of this rare tumor entity.

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“…After systematic review and statistical analyses, we found that pediatric age, purely solid nature of the tumor, and inadequate resection may be risk factors associated with progression events. The efficacies of adjuvant radiotherapy and chemotherapy are yet to be determined for RGNTs owing to limited administration experience [ 3 , 12 , 13 , 16 , 44 ], and their confirmative role requires further assessment. Although progressive events are rare for RGNTs, clinicians should be aware of these potential events and a long-term close follow-up is needed.…”

Section: Discussionmentioning

confidence: 99%

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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Rosette-forming glioneuronal tumour (RGNT) of the fourth ventricle: a highly aggressive case

Abstract: Experience of RGNT is limited. The prognostic significance of the histological findings of vascular proliferation and necrosis is still unknown. The clinical improvement in our patient endorses our decision to perform aggressive treatment.

Cited by 34 publications

References 15 publications

Comprehensive genetic characterization of rosette‐forming glioneuronal tumors: independent component analysis by tissue microdissection

Comprehensive genetic characterization of rosette‐forming glioneuronal tumors: independent component analysis by tissue microdissection

Molecular Profiling of a Rare Rosette-Forming Glioneuronal Tumor Arising in the Spinal Cord

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

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