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Neuropathology and Applied Neurobiology Feb 2020
Topics: Child, Preschool; Humans; Male; Neoplasm Grading; Neoplasms, Neuroepithelial; Oncogene Fusion; RNA-Binding Protein EWS; Spinal Cord; Spinal Cord Neoplasms; Trans-Activators; Tumor Suppressor Proteins
PubMed: 31863478
DOI: 10.1111/nan.12593 -
Cancer Genetics 2016Astroblastomas are rare primary brain tumors, diagnosed based on histologic features. Not currently assigned a WHO grade, they typically display indolent behavior, with...
Astroblastomas are rare primary brain tumors, diagnosed based on histologic features. Not currently assigned a WHO grade, they typically display indolent behavior, with occasional variants taking a more aggressive course. We characterized the immunohistochemical characteristics, copy number (high-resolution array comparative genomic hybridization, OncoCopy) and mutational profile (targeted next-generation exome sequencing, OncoPanel) of a cohort of seven biopsies from four patients to identify recurrent genomic events that may help distinguish astroblastomas from other more common high-grade gliomas. We found that tumor histology was variable across patients and between primary and recurrent tumor samples. No common molecular features were identified among the four tumors. Mutations commonly observed in astrocytic tumors (IDH1/2, TP53, ATRX, and PTEN) or ependymoma were not identified. However one case with rapid clinical progression displayed mutations more commonly associated with GBM (NF1(N1054H/K63)*, PIK3CA(R38H) and ERG(A403T)). Conversely, another case, originally classified as glioblastoma with nine-year survival before recurrence, lacked a GBM mutational profile. Other mutations frequently seen in lower grade gliomas (BCOR, BCORL1, ERBB3, MYB, ATM) were also present in several tumors. Copy number changes were variable across tumors. Our findings indicate that astroblastomas have variable growth patterns and morphologic features, posing significant challenges to accurate classification in the absence of diagnostically specific copy number alterations and molecular features. Their histopathologic overlap with glioblastoma will likely confound the observation of long-term GBM "survivors". Further genomic profiling is needed to determine whether these tumors represent a distinct entity and to guide management strategies.
Topics: Adult; Brain Neoplasms; Comparative Genomic Hybridization; DNA Mutational Analysis; Female; Gene Dosage; Genome-Wide Association Study; High-Throughput Nucleotide Sequencing; Humans; Male; Middle Aged; Neoplasm Recurrence, Local; Neoplasms, Neuroepithelial; Sequence Analysis, DNA
PubMed: 27425854
DOI: 10.1016/j.cancergen.2016.06.002 -
Neurologia (Barcelona, Spain) Apr 2010gliomatosis cerebri (GC) is a rare, diffusely growing glial tumour characterized by extensive brain infiltration. The diversity of histological subtype and grade on...
INTRODUCTION
gliomatosis cerebri (GC) is a rare, diffusely growing glial tumour characterized by extensive brain infiltration. The diversity of histological subtype and grade on presentation among different subjects, in addition to the usually poor response to treatment make GC an uncertain entity where many questions still remain unanswered. One article in this issue of NEUROLOGIA describes a series of 22 patients with GC, where clinical, therapeutic and outcome results are detailed.
DEVELOPMENT
clinical presentation of GC is non-specific and, although the neuroimage is characteristic, the spectrum of differential diagnosis is wide. Despite the fact that known prognostic factors in glioma also seem to be involved in GC, the heterogeneity of pathology and molecular findings on biopsy samples makes it difficult to characterise GC correctly. Therefore, variability of outcome and response to therapy is the rule. Evidence on therapeutic strategies is based on case-series. According to this, the optimal treatment is not well established. Part of current research is focused on identifying molecular predictor factors of response to chemotherapy.
CONCLUSIONS
the addition of chemotherapy in the classic treatment schedule based on radiotherapy seems to produce better responses in GC patients. However, the outcome of these patients remains poor with low survival rates. Phase III multi-centre trials to evaluate different therapeutic strategies in GC are essential. Further knowledge on the histological profile and molecular prognostic factors is also required. Patients should be stratified according to the prognostic factors identified.
Topics: Antineoplastic Agents; Brain Neoplasms; Diagnosis, Differential; Humans; Neoplasms, Neuroepithelial; Prognosis; Treatment Outcome
PubMed: 20492859
DOI: 10.1016/s0213-4853(10)70001-3 -
No Shinkei Geka. Neurological Surgery Oct 2013Astroblastomas are rare glial tumors. We report a case of 33-year-old woman with high-grade astroblastoma with hypervascularity. She had a one-month history of right... (Review)
Review
Astroblastomas are rare glial tumors. We report a case of 33-year-old woman with high-grade astroblastoma with hypervascularity. She had a one-month history of right visual disturbance and papillar edema. MRI revealed a lobulated mass with cysts and flow voids in the right superficial frontal lobe, a phenomenon described as "bubbly appearance". Right carotid angiography demonstrated marked tumor stain and early venous filling. MR spectroscopy showed an increase in myoinositol and the choline/creatine ratio, and decreased N-acetyl aspartate. The lipid and lactate level was not increased. The well-circumscribed tumor was totally resected. Histological examination showed perivascular pseudorosettes and hyalinization of blood vessels with high cellularity, anaplastic nuclear features, focal necrosis, mitosis, and endothelial proliferation. Immunohistochemically, glial fibrillary acidic protein and S-100 protein were intensely positive and the MIB-1 labeling index was high(20%)in the tumor cells. Based on these findings, a diagnosis of high-grade astroblastoma was made. The patient received postoperative radiotherapy and chemotherapy with temozolomide and suffered no relapse in the course of 3 years after surgery. Characteristically, astroblastomas manifest a "bubbly appearance" and a lobulated mass on MRI scans. As these tumors tend to be hypervascular, angiograms are useful for designing the operative strategy. However, their low-or high grade is difficult to ascertain preoperatively based on MRI-, MRS-, and DSA findings. The standard therapy for high-grade astroblastoma is total resection and postoperative radiation therapy. As the incidence of tumor recurrence is high, we recommend additional chemotherapy with TMZ.
Topics: Adult; Brain Neoplasms; Chemoradiotherapy; Diagnosis, Differential; Female; Humans; Magnetic Resonance Imaging; Neoplasms, Neuroepithelial; Treatment Outcome
PubMed: 24091461
DOI: No ID Found -
No Shinkei Geka. Neurological Surgery Feb 2020Astroblastoma is a rare, supratentorial glial tumor, occurring predominantly in children and young adults. However, treatment strategies have not yet been established...
INTRODUCTION
Astroblastoma is a rare, supratentorial glial tumor, occurring predominantly in children and young adults. However, treatment strategies have not yet been established for this rare disease.
CASE PRESENTATION
A 6-year-old boy presented with headache and nausea. CT and MRI revealed a left frontal mass lesion with slight edema and macrocalcifications. Gross tumor resection was performed. Histological examination found neoplastic cells with astroblastic characteristics, and a striking perivascular array of pseudorosettes. The final diagnosis was high-grade astroblastoma. MRI 13 months after surgery suggested local recurrence, and an enlargement was found 3 months later. Stereotactic radiotherapy(SRT)was performed. MRI after SRT showed enhanced cyst formation around the tumor bed, suggesting tumor recurrence. However, C-methionine positron emission tomography(PET)revealed radiation necrosis. The last follow-up MRI 15 months after SRT showed no further recurrence.
CONCLUSION
Astroblastoma is rare, therefore, no optimal management is known. SRT may be effective to treat recurrent astroblastomas. C-methionine PET/CT was useful to differentiate metastatic disease from radiation necrosis.
Topics: Brain Neoplasms; Child; Humans; Male; Neoplasm Recurrence, Local; Neoplasms, Neuroepithelial; Positron Emission Tomography Computed Tomography; Radiosurgery
PubMed: 32094314
DOI: 10.11477/mf.1436204152 -
Child's Nervous System : ChNS :... Mar 2005The object was to describe the clinical, radiologic, and pathologic features of astroblastomas in an unselected group of children who were treated in a single... (Comparative Study)
Comparative Study
OBJECT
The object was to describe the clinical, radiologic, and pathologic features of astroblastomas in an unselected group of children who were treated in a single institution during an 11-year period.
METHODS
Eight children with astroblastomas of the brain were examined. Diagnosis was based on cell morphology, vascular attachment of the cell main process, lack of an epithelial-free surface differentiation, and poor intercellular cohesiveness. In addition to sections, tumor smears and electron microscopy were required for demonstrating or confirming such features.
CONCLUSIONS
Clinical findings seem to confirm an apparent predilection of astroblastomas for younger children (median age of onset, 5 years) and the existence of two prognostically different types of tumor-well differentiated (low grade) and anaplastic (high grade). Microscopic findings suggest a closer resemblance of tumor cells to astroblasts rather than to "tanycytes" or ependymal cells. It seems, however, that anaplastic astroblasts have a tendency to evolve toward, or be associated with, less differentiated cells, either neuroepithelial or sarcomatous.
Topics: Adolescent; Blood Vessels; Child; Child, Preschool; Female; Follow-Up Studies; Humans; Infant; Magnetic Resonance Imaging; Male; Microscopy, Electron, Scanning; Neoplasms, Neuroepithelial; Oligodendroglia; Tomography, X-Ray Computed
PubMed: 15654633
DOI: 10.1007/s00381-004-1055-7 -
Genes, Chromosomes & Cancer Jul 2022MN1-BEND2 is considered as a defining gene fusion of astroblastoma. Herein, we report the first case of soft-tissue sarcoma with this fusion. The tumor developed in the...
MN1-BEND2 is considered as a defining gene fusion of astroblastoma. Herein, we report the first case of soft-tissue sarcoma with this fusion. The tumor developed in the abdominal wall of an 87-year-old woman, and consisted of a striking storiform growth of low-grade spindle cells admixed with a dense proliferation of oval cells with a higher nuclear atypia and mitotic activity. The sarcoma was immunohistochemically positive for actin but negative for S100 protein, glial fibrillary acidic protein, and Olig2. Targeted RNA sequencing identified an in-frame MN1 (exon 1)-BEND2 (exon 11) fusion transcript, which was validated by reverse transcription polymerase chain reaction, Sanger sequencing, and MN1 break-apart fluorescence in situ hybridization. DNA methylation profiling revealed that the tumor did not match any sarcoma classes based on the DKFZ classifier. Using T-distributed stochastic neighbor embedding analysis, the sarcoma was plotted close to the provisional class "Sarcoma (malignant peripheral nerve sheath tumor-like)," despite no phenotypic resemblance. Copy number analysis using methylation data demonstrated losses at 2q, 8p, 9p, 11p, 14q, 19q, and 22q. When compared with a cerebral astroblastoma sample with MN1 (exon 1)-BEND2 (exon 9) fusion, the sarcoma showed no resemblance in histology, immunophenotype, or DNA methylation profile, although they shared copy number loss at 14q, 19q, and 22q. The present report demonstrated that MN1-BEND2 is another example of a pleiotropic fusion gene that is shared among different tumor types.
Topics: Aged, 80 and over; Female; Humans; Gene Fusion; In Situ Hybridization, Fluorescence; Neoplasms, Neuroepithelial; Oncogene Proteins, Fusion; Sarcoma; Soft Tissue Neoplasms; Trans-Activators; Tumor Suppressor Proteins
PubMed: 35094441
DOI: 10.1002/gcc.23028 -
Handbook of Clinical Neurology 2012
Review
Topics: Humans; Neoplasms, Neuroepithelial
PubMed: 22230515
DOI: 10.1016/B978-0-444-53502-3.00005-7 -
Pediatric Blood & Cancer Oct 2023
Topics: Humans; Child; Germ-Line Mutation; Neoplasms, Neuroepithelial; Brain Neoplasms; Trans-Activators; Tumor Suppressor Proteins; Ataxia Telangiectasia Mutated Proteins
PubMed: 37391863
DOI: 10.1002/pbc.30502 -
Neuropathology and Applied Neurobiology Oct 2021In a case of astroblastoma, methylation analysis was uninformative, with no clustering with known CNS-HGNET-MN1 cases. Whole genome sequencing however identified a novel...
In a case of astroblastoma, methylation analysis was uninformative, with no clustering with known CNS-HGNET-MN1 cases. Whole genome sequencing however identified a novel MN1-GTSE1 gene fusion (image), confirming the diagnosis of astroblastoma, as well as an EWSR1-PATZ1 gene fusion. Whole genome sequencing, alongside methylation profiling and conventional neuropathology, will continue to lead to improved diagnostics and prognostication for children with brain tumours.
Topics: Adolescent; Brain Neoplasms; Female; Gene Fusion; Humans; Kruppel-Like Transcription Factors; Microtubule-Associated Proteins; Neoplasms, Neuroepithelial; Repressor Proteins; Trans-Activators; Tumor Suppressor Proteins
PubMed: 33534137
DOI: 10.1111/nan.12701