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Pediatric Radiology Aug 2016Astroblastoma is a rare tumor of uncertain origin most commonly presenting in the cerebrum of children and young adults. The literature contains only case reports and... (Review)
Review
BACKGROUND
Astroblastoma is a rare tumor of uncertain origin most commonly presenting in the cerebrum of children and young adults. The literature contains only case reports and small series regarding its radiologic features. This systematic review is the largest study of imaging findings of astroblastoma to date and serves to identify features that might differentiate it from other neoplasms.
OBJECTIVE
This study describes the imaging features of astroblastoma based on a systematic review of the literature and two new cases.
MATERIALS AND METHODS
We conducted a PubMed and Google Scholar database search that identified 59 publications containing 125 cases of pathology-confirmed astroblastoma, and we also added two new cases from our own institution. Data collected include patient age, gender, tumor location, morphology, calcifications and calvarial changes. We recorded findings on CT, MRI, diffusion-weighted imaging (DWI), MR spectroscopy, positron emission tomography (PET) and catheter angiography.
RESULTS
Age at diagnosis ranged 0-70 years (mean 18 years; median 14 years). Female-to-male ratio was 8:1. Of 127 cases, 66 reported CT, 78 reported MRI and 47 reported both findings. Not all authors reported all features, but the tumor features reported included supratentorial in 96% (122/127), superficial in 72% (48/67), well-demarcated in 96% (79/82), mixed cystic-solid in 93% (79/85), and enhancing in 99% (78/79). On CT, 84% (26/31) of astroblastomas were hyperattenuated, 73% (27/37) had calcifications and 7 cases reported adjacent calvarial erosion. Astroblastomas were hypointense on T1-W in 58% (26/45) and on T2-W in 50% (23/46) of MRI sequences. Peritumoral edema was present in 80% (40/50) of cases but was typically described as slight. Six cases included DWI findings, with 100% showing restricted diffusion. On MR spectroscopy, 100% (5/5) showed nonspecific tumor spectra with elevated choline and decreased N-acetylaspartate (NAA). PET revealed nonspecific reduced uptake of [F-18] 2-fluoro-2-deoxyglucose ((18)F-FDG) and increased uptake of [11C]-Methionine in 100% (3/3) of cases. Catheter angiography findings (n=12) were variable, including hypervascularity in 67%, arteriovenous shunting in 33% and avascular areas in 25%.
CONCLUSION
Astroblastomas occur most often in adolescent girls. Imaging often shows a supratentorial, superficial, well-defined, cystic-solid enhancing mass. On CT, most are hyperattenuated, have calcifications, and may remodel adjacent bone if superficial. MRI characteristically reveals a hypointense mass on T1-W and T2-W sequences with restricted diffusion. MR spectroscopy, PET and catheter angiography findings are nonspecific.
Topics: Brain Neoplasms; Diagnosis, Differential; Humans; Neoplasms, Neuroepithelial; Neuroimaging
PubMed: 27048363
DOI: 10.1007/s00247-016-3607-x -
Neuropathology and Applied Neurobiology Aug 2022Rosette-forming glioneuronal tumour (RGNT) is a rare central nervous system (CNS) World Health Organization (WHO) grade 1 brain neoplasm. According to the WHO 2021,...
AIM
Rosette-forming glioneuronal tumour (RGNT) is a rare central nervous system (CNS) World Health Organization (WHO) grade 1 brain neoplasm. According to the WHO 2021, essential diagnostic criteria are a 'biphasic histomorphology with neurocytic and a glial component, and uniform neurocytes forming rosettes and/or perivascular pseudorosettes associated with synaptophysin expression' and/or DNA methylation profile of RGNT whereas 'FGFR1 mutation with co-occurring PIK3CA and/or NF1 mutation' are desirable criteria.
MATERIAL AND METHODS
We report a series of 46 cases fulfilling the essential pathological diagnostic criteria for RGNT. FGFR1 and PIK3CA hotspot mutations were searched for by multiplexed digital PCR in all cases, whereas DNA methylation profiling and/or PIK3R1 and NF1 alterations were analysed in a subset of cases.
RESULTS
Three groups were observed. The first one included 21 intracranial midline tumours demonstrating FGFR1 mutation associated with PIK3CA or PIK3R1 (n = 19) or NF1 (n = 1) or PIK3CA and NF1 (n = 1) mutation. By DNA methylation profiling, eight cases were classified as RGNT (they demonstrated FGFR1 and PIK3CA or PIK3R1 mutations). Group 2 comprised 11 cases associated with one single FGFR1 mutation. Group 3 included six cases classified as low-grade glioma (LGG) other than RGNT (one-sixth showed FGFR1 mutation and one a FGFR1 and NF1 mutation) and eight cases without FGFR1 mutation. Groups 2 and 3 were enriched in lateral and spinal cases.
CONCLUSIONS
We suggest adding FGFR1 mutation and intracranial midline location as essential diagnostic criteria. When DNA methylation profiling is not available, a RGNT diagnosis remains certain in cases demonstrating characteristic pathological features and FGFR1 mutation associated with either PIK3CA or PIK3R1 mutation.
Topics: Brain Neoplasms; Central Nervous System Neoplasms; Class I Phosphatidylinositol 3-Kinases; Class Ia Phosphatidylinositol 3-Kinase; Glioma; Humans; Neoplasms, Neuroepithelial; Receptor, Fibroblast Growth Factor, Type 1
PubMed: 35293634
DOI: 10.1111/nan.12813 -
Current Oncology Reports Oct 2015Ependymomas are a heterogeneous group of neuroepithelial tumors of children and adults. In pediatric cases, the standard of care has long consisted of neurosurgical... (Review)
Review
Ependymomas are a heterogeneous group of neuroepithelial tumors of children and adults. In pediatric cases, the standard of care has long consisted of neurosurgical resection to the greatest extent acceptable followed by adjuvant involved field irradiation. Complete macroscopic surgical resection has remained the only consistent clinical variable known to improve survival. Adjuvant chemotherapy has yet to predictably affect outcome, possibly due to the molecular heterogeneity of histologically similar tumors. The administration of chemotherapy subsequently remains limited to clinical trials. However, recent comprehensive genomic, transcriptomic, and epigenetic interrogations of ependymomas have uncovered unique molecular characteristics and subtypes that correlated with clinical features such as age, neuroanatomical location, and prognosis. These findings represent a potential paradigm shift and provide a biologic rationale for targeted therapeutic strategies and risk-adapted administration of conventional treatment modalities. In this review, we focus on intracranial WHO grade II and III ependymoma of children and discuss conventional management strategies, followed by recent biologic findings and novel therapeutics currently under investigation.
Topics: Brain Neoplasms; Chemotherapy, Adjuvant; Child; Child, Preschool; Disease-Free Survival; Ependymoma; Genetic Markers; Humans; Infant; Neurosurgical Procedures; Prognosis; Radiotherapy, Adjuvant
PubMed: 26369328
DOI: 10.1007/s11912-015-0470-0 -
AJNR. American Journal of Neuroradiology Aug 2022Glioneuronal tumors are characterized exclusively by neurocytic elements (neuronal tumors) or a combination of neuronal and glial features (mixed neuronal-glial tumors).... (Review)
Review
Glioneuronal tumors are characterized exclusively by neurocytic elements (neuronal tumors) or a combination of neuronal and glial features (mixed neuronal-glial tumors). Most of these tumors occur in young patients and are related to epilepsy. While ganglioglioma, dysembryoplastic neuroepithelial tumor, and desmoplastic infantile tumor are common glioneuronal tumors, anaplastic ganglioglioma, papillary glioneuronal tumor, rosette-forming glioneuronal tumor, gangliocytoma, and central neurocytoma are less frequent. Advances in immunohistochemical and molecular diagnostics have improved the characterization of these tumors and favored the description of variants and new subtypes, some not yet classified by the World Health Organization. Not infrequently, the histologic findings of biopsies of glioneuronal tumors simulate low-grade glial neoplasms; however, some imaging findings favor the correct diagnosis, making neuroimaging essential for proper management. Therefore, the aim of this review was to present key imaging, histopathology, immunohistochemistry, and molecular findings of glioneuronal tumors and their variants.
Topics: Humans; Child; Ganglioglioma; Neoplasms, Neuroepithelial; Central Nervous System Neoplasms; Brain Neoplasms; Neuroimaging
PubMed: 35512827
DOI: 10.3174/ajnr.A7465 -
Diagnostic Pathology Feb 2024This study aimed to investigate the clinicopathological characteristics, diagnostic indicators, and critical factors for the differential diagnosis of rosette-forming... (Review)
Review
BACKGROUND
This study aimed to investigate the clinicopathological characteristics, diagnostic indicators, and critical factors for the differential diagnosis of rosette-forming glioneuronal tumor (RGNT).
PATIENTS AND METHODS
This retrospective study included six surgically treated RGNT cases. We analyzed and summarized their clinical manifestations, radiological features, histological morphology, immunophenotype, and molecular genetic changes, supplemented with a literature review.
RESULTS
The patients comprised four males and two females with a mean age of 35 years. The tumors were located in the cerebellum (two cases); the fourth ventricle, quadrigeminal cistern, and third ventricle (one case each); and the fourth ventricle and brainstem (one case). Clinical manifestations included headaches in four cases, left eyelid ptosis in one case, and one asymptomatic case only identified during physical examination. Microscopically, the tumor cells were uniform in size and were marked by rosette-like or pseudorosette-like structures around the neuropil and blood vessels. Immunohistochemistry revealed biphasic patterns. The central neuropil components of the rosette-like structures around the neuropil and the pseudorosette structures of the perivascular regions expressed Syn, while the cells surrounding the rosettes expressed Olig2 and not GFAP. GFAP and S-100 were expressed in the glial components but not in the rosette or pseudorosette regions. The Ki-67 proliferation index was typically low. Molecular genetic analysis showed that the main molecular changes involved FGFR1 mutation accompanied by PIK3R1 mutation. None of the patients received chemoradiotherapy postoperatively. Follow-up durations varied between 4 and 23 months with no recorded recurrence or metastasis.
CONCLUSION
RGNT is a comparatively rare mixed glioneuronal tumor that occurs in the midline structures. Its morphology shows certain overlaps with other low-grade neuroepithelial tumors. Identifying the rosettes around the neuropil is critical for morphological diagnosis, and the molecular identification of FGFR1 mutations accompanied by PIK3R1 mutations can facilitate diagnosis.
Topics: Adult; Female; Humans; Male; Brain Neoplasms; Central Nervous System Neoplasms; Diagnosis, Differential; Fourth Ventricle; Mutation; Neoplasms, Neuroepithelial; Retrospective Studies
PubMed: 38388383
DOI: 10.1186/s13000-024-01465-6 -
Journal of Medical Case Reports Apr 2018Astroblastoma is a controversial and an extremely rare central nervous system neoplasm. Although its histogenesis has been clarified recently, controversies exist... (Review)
Review
BACKGROUND
Astroblastoma is a controversial and an extremely rare central nervous system neoplasm. Although its histogenesis has been clarified recently, controversies exist regarding its cellular origin and validity as a distinct entity. Because of its extreme rarity and because its common features are shared with other glial neoplasms, this tumor is prone to misdiagnosis and remains challenging not only in terms of diagnosis and classification but also in the subsequent management. This case report describes a new case of astroblastoma. It discusses clinical, radiologic, pathological, and therapeutic features and differential diagnosis of this rare neoplasm, with a review of the recent literature.
CASE PRESENTATION
We report the case of an 8-year-old Moroccan girl who presented with a 1-year history of epileptic seizure, headache, and decreased visual acuity. Cranial magnetic resonance imaging revealed a right occipito-temporal mass. A tumor resection was performed and histological examination combined with immunohistochemical study confirmed the diagnosis of low-grade astroblastoma.
CONCLUSIONS
Astroblastoma is a very rare primary brain tumor. Its diagnosis is often challenging because of the astroblastic aspects that can be found in astrocytic tumors, in ependymomas, and in non-neuroepithelial tumors. Considerable confusion surrounds its histogenesis and classification. The low incidence rate makes it difficult to conduct studies to examine tumor characteristics.
Topics: Brain Neoplasms; Child; Diagnosis, Differential; Female; Glioblastoma; Headache; Humans; Magnetic Resonance Imaging; Neoplasms, Neuroepithelial; Seizures
PubMed: 29678196
DOI: 10.1186/s13256-018-1623-1 -
Neuropathology : Official Journal of... Oct 2018A 41-year-old man presented to us with left arm and leg weakness and mild word finding difficulties. His preoperative magnetic resonance imaging (MRI) demonstrated... (Review)
Review
A 41-year-old man presented to us with left arm and leg weakness and mild word finding difficulties. His preoperative magnetic resonance imaging (MRI) demonstrated abnormal T1 and T2 signal changes in the right temporal lobe and basal ganglia, indicative of possible glioma. An awake craniotomy for right temporal lobectomy was performed and the tumor was resected. Full pathologic workup later revealed the patient had two distinct tumors occurring simultaneously, anaplastic astrocytoma and astroblastoma. We review the literature regarding the treatment of anaplastic astrocytoma and astroblastoma and discuss their co-occurrence.
Topics: Adult; Astrocytoma; Brain Neoplasms; Humans; Male; Neoplasms, Multiple Primary; Neoplasms, Neuroepithelial
PubMed: 29939429
DOI: 10.1111/neup.12483 -
Brain : a Journal of Neurology Apr 2022Unlike other tumours, the anatomical extent of brain tumours is not objectified and quantified through staging. Staging systems are based on understanding the anatomical...
Unlike other tumours, the anatomical extent of brain tumours is not objectified and quantified through staging. Staging systems are based on understanding the anatomical sequence of tumour progression and its relationship to histopathological dedifferentiation and survival. The aim of this study was to describe the spatiotemporal phenotype of the most frequent brain tumour entities, to assess the association of anatomical tumour features with survival probability and to develop a staging system for WHO grade 2 and 3 gliomas and glioblastoma. Anatomical phenotyping was performed on a consecutive cohort of 1000 patients with first diagnosis of a primary or secondary brain tumour. Tumour probability in different topographic, phylogenetic and ontogenetic parcellation units was assessed on preoperative MRI through normalization of the relative tumour prevalence to the relative volume of the respective structure. We analysed the spatiotemporal tumour dynamics by cross-referencing preoperative against preceding and subsequent MRIs of the respective patient. The association between anatomical phenotype and outcome defined prognostically critical anatomical tumour features at diagnosis. Based on a hypothesized sequence of anatomical tumour progression, we developed a three-level staging system for WHO grade 2 and 3 gliomas and glioblastoma. This staging system was validated internally in the original cohort and externally in an independent cohort of 300 consecutive patients. While primary CNS lymphoma showed highest probability along white matter tracts, metastases enriched along terminal arterial flow areas. Neuroepithelial tumours mapped along all sectors of the ventriculocortical axis, while adjacent units were spared, consistent with a transpallial behaviour within phylo-ontogenetic radial units. Their topographic pattern correlated with morphogenetic processes of convergence and divergence of radial units during phylo- and ontogenesis. While a ventriculofugal growth dominated in neuroepithelial tumours, a gradual deviation from this neuroepithelial spatiotemporal behaviour was found with progressive histopathological dedifferentiation. The proposed three-level staging system for WHO grade 2 and 3 gliomas and glioblastoma correlated with the degree of histological dedifferentiation and proved accurate in terms of survival upon both internal and external validation. In conclusion, this study identified specific spatiotemporal phenotypes in brain tumours through topographic probability and growth pattern assessment. The association of anatomical tumour features with survival defined critical steps in the anatomical sequence of neuroepithelial tumour progression, based on which a staging system for WHO grade 2 and 3 gliomas and glioblastoma was developed and validated.
Topics: Brain Neoplasms; Glioblastoma; Glioma; Humans; Neoplasms, Neuroepithelial; Phylogeny
PubMed: 34554211
DOI: 10.1093/brain/awab352 -
Journal of Neurosurgery. Pediatrics May 2022Astroblastoma (AB) is a rare glial tumor. The optimal treatment and prognosis of this tumor remain unclear. The authors retrospectively analyzed the clinical...
OBJECTIVE
Astroblastoma (AB) is a rare glial tumor. The optimal treatment and prognosis of this tumor remain unclear. The authors retrospectively analyzed the clinical characteristics, neuroimaging findings, histopathological results, and treatment outcomes of 7 patients with AB.
METHODS
The study comprised 7 patients with pathologically proven AB who were surgically treated at Samsung Medical Center from November 1994 to January 2019. Clinicoradiological, histopathological, and surgical records were reviewed.
RESULTS
The patients included 5 girls (71.4%) and 2 boys (28.6%), with a median age of 13 years. All patients showed contrast enhancement on preoperative MRI: 5 ABs (71.4%) showed a concomitant solid and cystic appearance, and 2 (28.6%) demonstrated a solid appearance. ABs in 6 patients (85.7%) showed a well-circumscribed, characteristic "bubbly" appearance on T2-weighted MRI. Gross-total resection (GTR) was achieved in all cases (100%). Six patients (85.7%) were diagnosed with high-grade AB and 1 (14.3%) with low-grade AB. Six (85.7%) of the 7 patients received adjuvant treatment after resection, including 5 (83.3%) with AB who received chemotherapy and radiotherapy and 1 (16.7%) who received proton therapy alone. The median clinical follow-up duration was 96 months (range 48-189 months). Two patients experienced recurrence, and all patients in this series were alive at the last follow-up.
CONCLUSIONS
In this study, the clinicoradiological and histopathological features of AB were described. Based on the authors' limited experience with 7 cases, resection with the goal of GTR is currently the mainstream treatment for AB, and adjuvant radiation treatment should be considered after surgery.
Topics: Male; Female; Humans; Child; Adolescent; Brain Neoplasms; Retrospective Studies; Treatment Outcome; Neoplasms, Neuroepithelial; Glioma
PubMed: 35180693
DOI: 10.3171/2022.1.PEDS21389 -
Journal of Neuroimaging : Official... Mar 2022Astroblastoma is a rare type of glial tumor, histologically classified into two types with different prognoses: high and low grade. We aimed to investigate the CT and... (Review)
Review
BACKGROUND AND PURPOSE
Astroblastoma is a rare type of glial tumor, histologically classified into two types with different prognoses: high and low grade. We aimed to investigate the CT and MRI findings of astroblastomas by collecting studies with analyzable neuroimaging data and extracting the imaging features useful for tumor grading.
METHODS
We searched for reports of pathologically proven astroblastomas with analyzable neuroimaging data using PubMed, Scopus, and Embase. Sixty-five studies with 71 patients with astroblastomas met the criteria for a systematic review. We added eight patients from our hospital, resulting in a final study cohort of 79 patients. The proportion of high-grade tumors was compared in groups based on the morphology (typical and atypical) using Fisher's exact test.
RESULTS
High- and low-grade tumors were 35/71 (49.3%) and 36/71 (50.7%), respectively. There was a significant difference in the proportion of high-grade tumors based on the tumor morphology (typical morphology: high-grade = 33/58 [56.9%] vs. atypical morphology, 2/13 [15.4%], p = .012). The reviews of neuroimaging findings were performed using the images included in each article. The articles had missing data due to the heterogeneity of the collected studies.
CONCLUSIONS
Detailed neuroimaging features were clarified, including tumor location, margin status, morphology, CT attenuation, MRI signal intensity, and contrast enhancement pattern. The classification of tumor morphology may help predict the tumor's histological grade, contributing to clinical care and future oncologic research.
Topics: Brain Neoplasms; Glioma; Humans; Magnetic Resonance Imaging; Neoplasms, Neuroepithelial; Neuroimaging
PubMed: 34816541
DOI: 10.1111/jon.12948