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Neuropathology and Applied Neurobiology Aug 2022Astroblastomas are neuroepithelial tumours defined by the presence of MN1 rearrangement and are typically located in the cerebral hemispheres. Rare cases of...
Astroblastomas are neuroepithelial tumours defined by the presence of MN1 rearrangement and are typically located in the cerebral hemispheres. Rare cases of astroblastoma-like tumours carrying an EWSR1-BEND2 fusion have been recently described in the brain stem and spinal cord. We report a paediatric case of neuroepithelial astroblastoma-like tumour occurring in the spine and carrying a novel MAMLD1-BEND2 fusion. We believe that our case aligns with the rare astroblastoma-like tumours with EWSR1-BEND2 fusion, in terms of non-hemispheric location, pathology, methylation profile and activation of BEND2 transcription. Whether they may represent a distinct entity or a variant of MN1-altered astroblastoma is not clear.
Topics: Brain Neoplasms; Child; Chromosome Aberrations; DNA-Binding Proteins; Humans; Neoplasms, Neuroepithelial; Nuclear Proteins; Spinal Cord Neoplasms; Trans-Activators; Transcription Factors; Tumor Suppressor Proteins
PubMed: 35301744
DOI: 10.1111/nan.12814 -
Pediatric Neurosurgery 2004
Topics: Brain Stem Neoplasms; Child; Humans; Male; Neoplasms, Neuroepithelial
PubMed: 15367808
DOI: 10.1159/000079860 -
Child's Nervous System : ChNS :... Sep 2022Astroblastomas are central nervous system tumours with unknown cell of origin and clinical behaviour. These tumours occur most commonly in cerebral hemispheres with...
Astroblastomas are central nervous system tumours with unknown cell of origin and clinical behaviour. These tumours occur most commonly in cerebral hemispheres with spinal astroblastomas being very rare. We report a case of spinal astroblastoma which harboured MN1 alteration.
Topics: Brain Neoplasms; Central Nervous System Neoplasms; Humans; Neoplasms, Neuroepithelial
PubMed: 35152342
DOI: 10.1007/s00381-022-05468-w -
Medicine Oct 2021Astroblastoma is a rare tumor of the central nervous system with uncertain biological behavior and origin. Its histopathological features have been well established,...
RATIONALE
Astroblastoma is a rare tumor of the central nervous system with uncertain biological behavior and origin. Its histopathological features have been well established, while, to our knowledge, astroblastoma with oligodendroglial-like cells have not been reported.
PATIENT CONCERNS
A 15-year-old girl presented with nausea, vomiting, headache, and visual disturbance.
DIAGNOSIS
Magnetic resonance imaging revealed a large neoplasm in the left temporal. Histologically, the tumor showed solid and pseudopapillary structure. Immunohistochemical staining showed that the tumor cells were positive for glial fibrillary acidic protein and vimentin. The oligodendroglial-like cells were positive for glial fibrillary acidic protein, vimentin, and oligodendrocyte transcription factor 2. The antigen KI67 labeling index was about 4%. Sequencing for isocitrate dehydrogenase (IDH) 1 codon 132 and IDH2 codon 172 gene mutations showed negative results. Furthermore, fluorescent analysis revealed neither 1p nor 19q deletion in the lesion. Based on these findings, the girl was finally diagnosed as astroblastoma.
INTERVENTIONS
A craniotomy with total excision of the tumor was performed.
OUTCOMES
The follow-up time was 1 year, no evidence of disease recurrence was found in magnetic resonance imaging.
LESSONS
Cerebral astroblastoma with oligodendroglial-like cells is a clinically rare tumor of central nervous system. Clear distinction and diagnosis are critical.
Topics: Adolescent; Brain Neoplasms; Craniotomy; Female; Humans; Neoplasms, Neuroepithelial
PubMed: 34713831
DOI: 10.1097/MD.0000000000027570 -
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 -
Journal of Clinical Neuroscience :... Jun 2011Astroblastoma is a rare tumor, and thus experience with these lesions is very limited. The prognosis and appropriate treatment is not well understood, as few individual... (Review)
Review
Astroblastoma is a rare tumor, and thus experience with these lesions is very limited. The prognosis and appropriate treatment is not well understood, as few individual centers have enough experience with astroblastoma to guide treatment recommendations. We performed a systematic comprehensive search of the published English language literature on patients undergoing surgery for astroblastoma to summarize what is known about these tumors, and to provide some framework for future efforts in this area. A total of 62 references met our inclusion criteria, and contained individual patient data on 116 patients with astroblastoma. Determination of overall survival rates was performed using Kaplan-Meier analysis. This analysis suggests that the distribution is bimodal, with a prominent peak in young adulthood. Astroblastomas are generally amenable to complete tumor resection, even when very large, with gross total resection (GTR) achieved in 71/85 (84%) of reported patients, including both 9cm tumors reported. Patients undergoing GTR experienced a significant improvement in survival compared to patients who underwent subtotal resection (STR) (5-year progression-free survival: GTR 83% versus [vs.] STR 55%, log rank p=0.011). Although patients receiving external beam radiotherapy or fractionated three-dimensional conformal radiotherapy (XRT) seemed to have lower survival rates, this was not statistically significant (5-year survival: GTR 94% vs. GTR+XRT 73%, log rank p=0.463). Thus, we have reported the results of a summary of the literature on astroblastomas and have accurately described outcome characteristics using a data set that would be difficult to accumulate at a single center treating this tumor.
Topics: Databases, Factual; Disease-Free Survival; Humans; Kaplan-Meier Estimate; Neoplasms, Neuroepithelial; Neurosurgical Procedures; Prognosis; Radiotherapy, Adjuvant; Treatment Outcome
PubMed: 21507653
DOI: 10.1016/j.jocn.2010.11.007 -
Acta Neurochirurgica Jun 2004Astroblastoma is a rare glial tumour about which little is known.
BACKGROUND
Astroblastoma is a rare glial tumour about which little is known.
METHOD
We report a case of cerebral high grade astroblastoma and discuss the clinical, histopathological, surgical, radiological and prognostic features of this tumour, in the light of the pertinent literature.
RESULT
Present patient had an initial histological diagnosis of glioblastoma multiforme. Three years later an histological reevaluation was performed and revealed a high grade astroblastoma. Our patient underwent surgical removal and radiotherapy; five years after the operation he is alive and without evidence of recurrence.
INTERPRETATION
Classification and histogenesis of this tumour is still debated. The lack of a clinicopathological correlation makes the prognosis of this tumour unpredictable. The optimal management is not defined, but total resection and post-operative radiotherapy seem to be the effective means to treat the astroblastoma.
Topics: Adult; Brain Neoplasms; Combined Modality Therapy; Cranial Irradiation; Diagnosis, Differential; Follow-Up Studies; Humans; Magnetic Resonance Imaging; Male; Neoplasms, Neuroepithelial; Radiotherapy, Adjuvant; Temporal Lobe; Tomography, X-Ray Computed
PubMed: 15168232
DOI: 10.1007/s00701-004-0230-7 -
Journal of Pediatric Hematology/oncology Jul 2024In the most recent fifth edition of the World Health Organization Classification of Tumors of the Central Nervous System, astroblastoma has been defined by molecular...
In the most recent fifth edition of the World Health Organization Classification of Tumors of the Central Nervous System, astroblastoma has been defined by molecular rearrangements involving the MN1 gene, with common partners being BEND2 or CXXC5 . Accordingly, this tumor entity is now known as "astroblastoma, MN1 -altered." However, gliomas with EWSR1::BEND2 fusions, devoid of MN1 fusion alterations, have recently been shown to exhibit astroblastoma-like histomorphologic features and reside in a distinct epigenetic subgroup based on DNA methylation studies similar to high-grade neuroepithelial tumor with MN1 alteration, which includes astroblastoma, MN1 altered tumors. This new epigenetically distinct subtype of astroblastoma containing EWSR1::BEND2 fusions lacks the required MN1 alteration and, thus, does not satisfy the current molecular classification of these lesions. Here, we describe a case of glioma with histologic features and DNA methylation profiling consistent with astroblastoma with a novel YAP1: : BEND2 fusion. This case and others further expand the molecular findings observable in astroblastoma-like tumors outside the constraints of MN1 alteration. Such cases of astroblastoma with EWSR1::BEND2 and YAP1::BEND2 fusions challenge the current molecular classification of astroblastoma based solely on an MN1 alteration.
Topics: Humans; Neoplasms, Neuroepithelial; Transcription Factors; YAP-Signaling Proteins; Adaptor Proteins, Signal Transducing; Oncogene Proteins, Fusion; Brain Neoplasms; Male; DNA Methylation; Phosphoproteins; Female
PubMed: 38857191
DOI: 10.1097/MPH.0000000000002885 -
Neuropathology : Official Journal of... Dec 2018Astroblastoma is a rare glial neoplasm that occurs mostly in the cerebral hemisphere of children, adolescents and young adults. Although astroblastic perivascular...
Astroblastoma is a rare glial neoplasm that occurs mostly in the cerebral hemisphere of children, adolescents and young adults. Although astroblastic perivascular pseudorosettes are unique histopathology of this neoplasm, diagnosis is usually challenging. Recently, it was discovered that the meningioma 1 gene (MN1)-altered pediatric central nervous system high-grade neuroepithelial tumors are actually astroblastomas. This case report presents a rare brainstem astroblastoma, with an unusual immunoprofile: negative for glial fibrillary acidic protein and oligodendrocyte transcription factor 2, but with a robust expression of pancytokeratin and epithelial membrane antigen. The diagnosis was confirmed based on the detection of MN1 rearrangement in a fluorescence in situ hybridization study, in addition to typical histopathology. Here we discuss the diagnostic pitfalls and unclear grading system along with a literature review.
Topics: Brain Stem Neoplasms; Child; Humans; Male; Neoplasms, Neuroepithelial; Trans-Activators; Translocation, Genetic; Tumor Suppressor Proteins
PubMed: 30238518
DOI: 10.1111/neup.12514 -
Pediatric Radiology Feb 2009Astroblastoma is a very rare primary glial tumor occurring in children and young adults that is almost exclusively supratentorial in location. We report an extremely... (Review)
Review
Astroblastoma is a very rare primary glial tumor occurring in children and young adults that is almost exclusively supratentorial in location. We report an extremely unusual presentation of a densely calcified posterior fossa astroblastoma with disseminated spinal and supratentorial metastasis. The mass exhibited neoplastic bone formation, which has not been reported, although calcifications are commonly seen in astroblastomas. A companion case of a low-grade astroblastoma that demonstrated classic histologic features but nonspecific and atypical imaging findings is also included. These cases expand the imaging and pathologic spectrum of this controversial tumor that shows highly variable biologic behavior and is difficult to distinguish from ependymoma.
Topics: Brain Stem Neoplasms; Calcinosis; Child; Female; Humans; Magnetic Resonance Imaging; Neoplasms, Neuroepithelial; Rare Diseases; Tomography, X-Ray Computed
PubMed: 18958463
DOI: 10.1007/s00247-008-1038-z