Rosette-forming Glioneuronal Tumour Research Articles

Enrichment of oligodendrocyte precursor phenotypes in subsets of low-grade glioneuronal tumours.

Current histological classification of low-grade glioneuronal tumours does not adequately represent their underlying biology. The neural lineage(s) and differentiation stage(s) involved and the cell state(s) affected by the recurrent genomic alterations are unclear. Here, we describe dysregulated oligodendrocyte lineage developmental programmes in three low-grade glioneuronal tumour subtypes. Ten dysembryoplastic neuroepithelial tumours, four myxoid glioneuronal tumours and five rosette-forming glioneuronal tumours were collected. Besides a comprehensive characterization of clinical features, known diagnostic markers and genomic alterations, we used comprehensive immunohistochemical stainings to characterize activation of rat sarcoma/mitogen-activated protein kinase pathway, involvement of neuronal component, resemblance to glial lineages and differentiation blockage along the stages of oligodendrocyte lineage. The findings were further complemented by gene set enrichment analysis with transcriptome data of dysembryoplastic neuroepithelial tumours from the literature. Dysembryoplastic neuroepithelial tumours, myxoid glioneuronal tumours and rosette-forming glioneuronal tumours occur at different ages, with symptoms closely related to tumour location. Dysembryoplastic neuroepithelial tumours and myxoid glioneuronal tumours contain oligodendrocyte-like cells and neuronal component. Rosette-forming glioneuronal tumours contained regions of rosette-forming neurocytic and astrocytic features. Scattered neurons, identified by neuronal nuclei antigen and microtubule-associated protein-2 staining, were consistently observed in all dysembryoplastic neuroepithelial tumours and myxoid glioneuronal tumours examined, but only in one rosette-forming glioneuronal tumour. Pervasive neurofilament-positive axons were observed only in dysembryoplastic neuroepithelial tumour and myxoid glioneuronal tumour samples. Alterations in B-Raf proto-oncogene, serine/threonine kinase, fibroblast growth factor receptor 1, fibroblast growth factor receptor 3 and platelet-derived growth factor receptor alpha occurred in a mutually exclusive manner, coinciding with strong staining of phospho-p44/42 mitogen-activated protein kinase and low apoptotic signal. All dysembryoplastic neuroepithelial tumours, myxoid glioneuronal tumours and the neurocytic regions of rosette-forming glioneuronal tumours showed strong expression of neuron-glia antigen 2, platelet-derived growth factor receptor alpha (markers of oligodendrocyte precursor cells) and neurite outgrowth inhibitor-A (a marker of developing oligodendrocytes), but lacked the expression of oligodendrocyte markers ectonucleotide pyrophosphatase/phosphodiesterase family member 6 and myelin basic protein. Notably, transcriptomes of dysembryoplastic neuroepithelial tumours were enriched in oligodendrocyte precursor cell signature, but not in signatures of neural stem cells, myelinating oligodendrocytes and astrocytes. Dysembryoplastic neuroepithelial tumour, myxoid glioneuronal tumour and rosette-forming glioneuronal tumour resemble oligodendrocyte precursor cells, and their enrichment of oligodendrocyte precursor cell phenotypes is closely associated with the recurrent mutations in rat sarcoma/mitogen-activated protein kinase pathway.

P20.12.B DNA METHYLATION PROFILING OF ADULT SPINAL GLIAL TUMOURS; RESULTS FROM A LARGE SINGLE CENTRE STUDY

Abstract BACKGROUND Glial tumours can occur in any central nervous system location, including the spinal cord. Although rare, spinal gliomas can represent a significant diagnostic challenge and are recognised as separate tumour types in the WHO classification. MATERIAL AND METHODS This study used DNA methylation profiling to characterise adult spinal glial tumours from a large neurosurgical centre, exploring relative frequencies, and the value of this technique in diagnostic workflows. A search in our laboratory information management system (2006-2021) identified 116 tumours, from patients aged 17.2-79.2 years. Diagnoses included ependymomas (all grades/subtypes) and other high- or low-grade gliomas (HGG/LGG). Extrinsic tumours (metastases, meningiomas, schwannomas) were excluded. DNA underwent methylation profiling (Illumina EPIC BeadArrays, n=116). iDat files were processed using the brain tumour classifier (MNP v12.5 R package), classifying cases against a reference cohort (n=2,800). Longitudinal (n=8) and poor QC cases (n=3) were excluded. RESULTS 83% (n=87) classified as an ependymoma (myxopapillary ependymoma (EPN_MPE, n=44), spinal ependymoma (n=43), spinal subependymoma (n=1)). We identified HGGs that were not diagnosed histologically (diffuse midline glioma, H3 K27-altered (n=2), high-grade astrocytoma with piloid features (n=1)) and 41% of cases (n=18/44) diagnosed histologically as an ependymoma, CNS WHO grade 2, classified as EPN_MPE. LGGs were less frequent (pilocytic astrocytoma (n=3), pleomorphic xanthoastrocytoma (n=1), rosette-forming glioneuronal tumour (n=1)). 9% (n=9) did not classify with existing methylation classes. Copy number analysis revealed subtype-specific changes, including prognostic alterations. CONCLUSION In conclusion, this single-centre study highlights the crucial role of DNA methylation profiling as part of diagnostic workflows for spinal glial tumours.

Редкое наблюдение розеткоформирующей глинейрональной опухоли 4-го желудочка: случай из практики

Rosette-forming glioneuronal tumour (RGNT) is a rare primary tumour of the central nervous system with a low degree of malignancy. Using such databases as PubMed, Web of Science and Google Scholar as well as terms “rosette and forming and glioneuronal”, we found 153 RGNT cases dated 2002-2020. Low occurrence of the disease and absence of specific symptoms make it possible to perform a differential diagnosis judging from the clinical picture. Clinical manifestations of the disease are rather variable and depend on the tumour location. Magnet-resonance tomography is the leading method for diagnosis of such disease. The article presents a case of successful treatment of a patient RGNT of the fourth ventricle. Subtotal resection of the tumour was performed due to its diffuse growth. Tumour residue is subject to dynamic follow-up observation

Rosette-forming glioneuronal tumour in a patient with neurofibromatosis type 1 – A case report

Rosette-forming glioneuronal tumour (RGNT) is a rare primary CNS neoplasm originally described arising in the fourth ventricle, and displaying a distinctive biphasic appearance of neurocytic and astrocytic components. Patients with neurofibromatosis type 1 (NF1) can have a variety of CNS manifestations, including neoplastic, and RGNT has been described in four cases to date. This case study reports a patient with NF1 who underwent resection of a left cerebellar lesion. Histology showed a lesion dominated by synaptophysin positive, neurocytic cells in a myxoid background, forming perivascular pseudorosettes and true rosettes surrounding a central eosinophilic fibrillary core. A second component of Olig2+, oligodendroglial-like cells was also noted in a nondescript glial background. Due to its readily recognisable appearance, a diagnosis of RGNT was made. This is now a fifth case report of RGNT, an already rare tumour, in a patient with NF1 and raises the interesting possibility of a potential association between the two.

Tumor glioneuronal formador de rosetas. Ejemplo poco frecuente de neoplasia del IV ventrículo

We present a case of a rosette-forming glioneuronal tumour of the fourth ventricle in a 14-year-old with no relevant previous clinical history. The patient presented with hypertensive hydrocephalus and radiology revealed a space-occupying lesion affecting the cerebellar vermis and obstructing the fourth ventricle. The tumour was removed and was seen to have a benign appearance and to be formed of rosette-like structures composed of acidophilic fibrillary material. It was positive for neuronal markers (synaptophysin and enolase) and glial markers (GRAP). The main features of this rare entity are discussed.

Rosette-forming glioneuronal tumour of the fourth ventricle arising in the cerebellar hemisphere: diagnostic challenges including cytological features in intra-operative squash preparations

Rosette-forming glioneuronal tumour (RGNT) is an entity newly codified in the 2007 WHO classification of tumours of the central nervous system. RGNTs are rare and typically arise in the mid-line in the region of the fourth ventricle. Origin at other sites such as cerebellar hemisphere, spinal cord and supratentorial sites has been described. The tumour consists of distinct neurocytic and astrocytic components, the former featuring distinctive neuro-cytic rosettes and perivascular pseudorosettes, and the latter resembling pilocytic astrocytoma. An atypical site of presentation and a predominance of either the neurocytic or astrocytic components at intra-operative consultation present diagnostic challenges. The distinctive appearance of the tumour in intra-operative squash preparations is a clue to the diagnosis in this setting. We describe the case of a RGNT which arose in the left cerebellar hemisphere. The intra-operative squash preparations showed the neurocytic rosettes and pseudorosettes within a loose fibrillary and mucinous background. The biphasic nature of the lesion was manifest in the frozen section, but more apparent in subsequent tissue sections. The differential diagnoses of RGNT with oligo-dendroglioma, pilocytic astrocytoma, central and extraventricular neurocytoma and dysembryoplastic neuroepithelial tumour are discussed.

Fourth ventricle rosette-forming glioneuronal tumour in children: an unusual presentation in an 8-year-old patient, discussion and review of the literature

Rosette-forming glioneuronal tumour of the fourth ventricle is a rarely described entity. While usually having an indolent course and hence classified as a WHO grade 1 tumour, the precise characteristics and risk of recurrence of this tumour are still unknown. In addition, the preferred treatment modality remains unclear. We present a case of an 8-year old with an early recurrence of 9months after undergoing a sub-total resection of her tumour. Following further resection, there was no tumour present on the 3-month follow-up. In order to better characterise this tumour entity, we performed a review of the available literature on the subject. We found that it mainly affected young adults and had a female predominance. While initially these tumours were described in the fourth ventricle, the current literature suggests that they may be found in a larger variety of sites within the brain and spinal cord. There are several reports of recurrence occurring between 9months and 10years following surgery. There is as yet no feature of the tumour that appears to predict the risk of recurrence. This phenomenon warrants further examination to discover if there is a sub-section of tumours that is likely to recur, and until this is established, all patients should be followed up at regular intervals.

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

We report a 33-year-old man with neurofibromatosis type 1 (NF-1) with a rosette-forming glioneuronal tumour (RGNT) in the lateral ventricle. The patient had been treated with radiotherapy and chemotherapy for a typical juvenile pilocytic astrocytoma of the hypothalamus seven years prior. MRI revealed a contrast-enhancing mass in the anterior horn of the left lateral ventricle. Histological examination demonstrated two distinct regions characterised by a rosette-forming neurocytic component and an astrocytic predominant component. Immunohistochemical studies showed glial fibrillary acidic protein and S-100 positivity in the astrocytic component and neuron-specific enolase was positive in the neurocytic cells. Although RGNT has been reported at other sites within the central nervous system, this report documents a previously undescribed lateral ventricular location of a rare RGNT in an asymptomatic patient with NF-1.

Rosette-Forming Glioneuronal Tumour of the 4th Ventricle in a NF1 Patient

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A rosette-forming glioneuronal tumour of the pineal gland

A rosette-forming glioneuronal tumour (RGNT) is a rare tumour with new information emerging. We review the literature and describe the second patient with a RGNT arising from the pineal gland. This is also the fifth report of a RGNT arising from outside the fourth ventricle. The prognosis of RGNT remains guarded, as long-term follow-up is not yet available for most patients reported. With only one of 35 patients having a documented recurrence at 10 years, the prognosis seems favourable with appropriate, but not necessarily total, surgical resection.

Cytology is a useful tool for the diagnosis of rosette‐forming glioneuronal tumour of the fourth ventricle: a report of two cases

CytopathologyVolume 21, Issue 3 p. 194-197 Cytology is a useful tool for the diagnosis of rosette-forming glioneuronal tumour of the fourth ventricle: a report of two cases M. Kinno, M. Kinno Department of Pathology, Saitama Medical University Hospital, SaitamaSearch for more papers by this authorK. Ishizawa, K. Ishizawa Department of Pathology, Saitama Medical University Hospital, SaitamaSearch for more papers by this authorS. Shimada, S. Shimada Department of Pathology, Saitama Medical University Hospital, SaitamaSearch for more papers by this authorH. Masaoka, H. Masaoka Department of Pathology, Saitama Medical University Hospital, SaitamaSearch for more papers by this authorM. Doi, M. Doi Department of Pathology, Saitama Medical University Hospital, SaitamaSearch for more papers by this authorS. Seyama, S. Seyama Department of Pathology, Saitama Medical University Hospital, SaitamaSearch for more papers by this authorT. Komori, T. Komori Department of Clinical Neuropathology, Tokyo Metropolitan Institute for Neuroscience, Tokyo, JapanSearch for more papers by this authorT. Hirose, T. Hirose Department of Pathology, Saitama Medical University Hospital, SaitamaSearch for more papers by this author M. Kinno, M. Kinno Department of Pathology, Saitama Medical University Hospital, SaitamaSearch for more papers by this authorK. Ishizawa, K. Ishizawa Department of Pathology, Saitama Medical University Hospital, SaitamaSearch for more papers by this authorS. Shimada, S. Shimada Department of Pathology, Saitama Medical University Hospital, SaitamaSearch for more papers by this authorH. Masaoka, H. Masaoka Department of Pathology, Saitama Medical University Hospital, SaitamaSearch for more papers by this authorM. Doi, M. Doi Department of Pathology, Saitama Medical University Hospital, SaitamaSearch for more papers by this authorS. Seyama, S. Seyama Department of Pathology, Saitama Medical University Hospital, SaitamaSearch for more papers by this authorT. Komori, T. Komori Department of Clinical Neuropathology, Tokyo Metropolitan Institute for Neuroscience, Tokyo, JapanSearch for more papers by this authorT. Hirose, T. Hirose Department of Pathology, Saitama Medical University Hospital, SaitamaSearch for more papers by this author First published: 07 May 2010 https://doi.org/10.1111/j.1365-2303.2008.00619.xCitations: 17 Dr T. Hirose, Department of Pathology, Saitama Medical University Hospital, Morohongo 38, Moroyama-town, Iruma-gun, Saitama, 350-0495, Japan.Tel.: +81 492761164; fax: +81 492761583; E-mail: [email protected] Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Citing Literature Volume21, Issue3June 2010Pages 194-197 RelatedInformation

Rosette-forming Glioneuronal Tumour of the Fourth Ventricle with Previous Intratumoural Haemorrhage: Case Report and Review of the Literature

The case is reported of a rosette-forming glioneuronal tumour of the fourth ventricle (RGTFV) in a 27-year-old male. Symptoms included headache, severe vomiting and clumsy walking that had progressively worsened over 14 days. Computed tomography and magnetic resonance imaging indicated a 3.0 x 2.5 x 2.0 cm solid-cystic mass in the fourth ventricle and obstructive hydrocephalus. The tumour showed evidence of previous intra-tumour haemorrhage, with heterogeneous enhancement after contrast administration. Complete excision of the lesion was performed. Signs of previous intra-tumoural haemorrhage were seen intra-operatively. The detailed clinical, radiological and pathological features in this patient are described and compared with existing literature on this type of tumour. Despite benign histological features and a reported favourable post-operative course, there is still limited clinical experience with this type of tumour, however intratumoural haemorrhage may result in morbidity and mortality. This report will help provide better characterization of this entity, improving the diagnosis and potentially reducing mortality in RGTFV.

The 2007 WHO Classification of Tumours of the Central Nervous System

The fourth edition of the World Health Organization (WHO) classification of tumours of the central nervous system, published in 2007, lists several new entities, including angiocentric glioma, papillary glioneuronal tumour, rosette-forming glioneuronal tumour of the fourth ventricle, papillary tumour of the pineal region, pituicytoma and spindle cell oncocytoma of the adenohypophysis. Histological variants were added if there was evidence of a different age distribution, location, genetic profile or clinical behaviour; these included pilomyxoid astrocytoma, anaplastic medulloblastoma and medulloblastoma with extensive nodularity. The WHO grading scheme and the sections on genetic profiles were updated and the rhabdoid tumour predisposition syndrome was added to the list of familial tumour syndromes typically involving the nervous system. As in the previous, 2000 edition of the WHO ‘Blue Book’, the classification is accompanied by a concise commentary on clinico-pathological characteristics of each tumour type. The 2007 WHO classification is based on the consensus of an international Working Group of 25 pathologists and geneticists, as well as contributions from more than 70 international experts overall, and is presented as the standard for the definition of brain tumours to the clinical oncology and cancer research communities world-wide.

Mixed glioneuronal tumour of the fourth ventricle with prominent rosette formation

We describe three unusual tumours characterized by a mixture of glial and neuronal differentiation, involvement of the posterior fossa and formation of rosettes. Mixed glial-neuronal tumours of the posterior fossa are rare and poorly described neoplasms. However, several distinctive entities have appeared in the literature over recent years under a variety of different names. Our cases demonstrate the morphological features of the 'rosette-forming glioneuronal tumour of the fourth ventricle', a recently identified tumour characterised by its unique location, neurocytic pseudo-rosette formation and the presence of a low grade astrocytoma component. The long term prognosis of these tumours remains unclear. However, the clinical data available including the cases presented here, along with the histological features, suggest that these are low grade tumours with a good prognosis after surgical resection.

Rosette-forming glioneuronal tumour of the fourth ventricle: report of a case with clinical and surgical implications

A 32-year-old woman presented with a 2-month history of episodic headache, cervical pain and neck rigidity. Neurological examination showed a moderate dysmetria. Magnetic resonance imaging (MRI) revealed a mass occupying the fourth ventricle. The patient underwent median sub-occipital craniotomy with total excision of the lesion well demarcated except for a portion infiltrating the right side of the IV ventricle wall. In the post-operative course the patient developed VI and VII right cranial nerves palsy and worsening of dysmetria. MRI confirmed the complete removal of the tumour without signs of recurrence. The pathological diagnosis was rosette forming glio-neuronal tumour (RGNT). At present this is the 13th RGNT reported in literature. These lesions are considered low-grade tumours (WHO I). Nevertheless, the case here reported, like in 6 of the 12 cases in literature, developed disabling post-operative deficits. To establish the therapeutic choice long-term follow-up studies are needed.