A case of cerebral astroblastoma with rhabdoid features: a cytological, histological, and immunohistochemical study

Yuzawa, Sayaka; Nishihara, Hiroshi; Tanino, Mishie; Kimura, Taichi; Moriya, Junji; Kamoshima, Yuuta; Nagashima, Kazuo; Tanaka, Shinya

doi:10.1007/s10014-015-0241-5

Cited by 18 publications

(13 citation statements)

References 32 publications

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“…Intriguingly, these tumors share some clinical, histologic and molecular features: both tumors showed a pathogenic TP53 mutation, numerous whole chromosome copy number alterations, occurred in adult patients and had an epithelioid/rhabdoid morphology with some discohesive cells. This histologic pattern has been described in several astroblastoma case reports (in addition to one included in this study) and could be associated with a favorable prognosis, as we saw in our cases . Surprisingly, neither DNA methylation profiling nor FISH suggested that these two tumors have an MN1 alteration, although we cannot exclude the possibility of an MN1 abnormality that cannot be detected by breakapart FISH in these cases.…”

Section: Discussionsupporting

confidence: 70%

Multimodal molecular analysis of astroblastoma enables reclassification of most cases into more specific molecular entities

et al. 2017

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Astroblastoma is a rare and controversial glioma with variable clinical behavior. The diagnosis currently rests on histologic findings of a circumscribed glioma with astroblastomatous pseudorosettes and vascular hyalinization. Immunohistochemical studies have suggested different oncogenic drivers, such as BRAF p.V600E, but very few cases have been studied using genome-wide methodologies. Recent genomic profiling identified a subset of CNS embryonal tumors with astroblastoma-like morphology that harbored MN1 gene fusions, termed "CNS high-grade neuroepithelial tumors with MN1 alteration" (CNS-HGNET-MN1). To further characterize the genetic alterations that drive astroblastomas, we performed targeted next-generation sequencing (NGS) of 500 cancer-associated genes in a series of eight cases. We correlated these findings with break-apart fluorescence in situ hybridization (FISH) analysis of the MN1 locus and genome-wide DNA methylation profiling. Four cases showed MN1 alteration by FISH, including two pediatric cases that lacked other pathogenic alterations, and two adult cases that harbored other cancer-associated gene mutations or copy number alterations (eg, CDKN2A/B homozygous deletion, TP53, ATM and TERT promoter mutations). Three of these cases grouped with the CNS-HGNET-MN1 entity by methylation profiling. Two of four MN1 intact cases by FISH showed genetic features of either anaplastic pleomorphic xanthoastrocytoma (BRAF p.V600E mutation, CDKN2A/B homozygous deletion and TERT promoter mutation) or IDH-wildtype glioblastoma (trisomy 7, monosomy 10, CDK4 amplification and TP53, NRAS and TERT promoter mutations) and these cases had an aggressive clinical course. Two clinically indolent cases remained unclassifiable despite multimodal molecular analysis. We conclude that astroblastoma histology is not specific for any entity including CNS-HGNET-MN1, and that additional genetic characterization should be considered for astroblastomas, as a number of these tumors likely contain a methylation profile or genetic alterations that suggest classification as other tumor entities. Our heterogeneous molecular findings help to explain the clinical unpredictability of astroblastoma.

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Section: Discussionsupporting

confidence: 70%

Multimodal molecular analysis of astroblastoma enables reclassification of most cases into more specific molecular entities

et al. 2017

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“…Moreover, in contrast to ependymomas, the spaces between the pseudorosettes were often rari ed. EMA expression was previously shown to be typically localized at the cell membrane in astroblastomas [22][23][24], which was also observed in our patient. In ependymoma, EMA is expressed along the luminal surface of some ependymal rosettes or manifests as dot-like perinuclear or ring-like cytoplasmic structures [25].…”

Section: Discussionsupporting

confidence: 87%

Cerebral astroblastoma with oligodendroglial-like cells：A case report

Gu¹,

Yu²,

Xu³

et al. 2020

Preprint

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Background: Astroblastoma is a rare tumor of the central nervous system, with unclear biological behavior and origin. Its histopathological features have been well established. However, to the best of our knowledge, astroblastoma with oligodendroglial-like cells have not been reported. Case presentation: Herein, we reported a case of astroblastoma with atypical pathological features. A 15-year-old girl presented with nausea, vomiting, headache and visual disturbance. Magnetic resonance imaging (MRI) revealed a large neoplasm in the left temporal lobe. Histologically, the tumor showed solid and pseudopapillary structure. The tumor cells were radially arranged around blood vessels, with a single, prominent process, and as astroblastic pseudorosettes. More importantly, typical oligodendroglial-like cells were observed. In addition to membrane staining for EMA, immunohistochemical staining also showed that the tumor cells were positive for GFAP and Vimentin. The oligodendroglial-like cells were positive for GFAP, Vimentin, and Olig-2. The Ki-67 labeling index was about 4%. Sequencing for IDH1 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 tumor was finally diagnosed as astroblastoma. Conclusions: Herein, we reported an extremely rare case of astroblastoma, which was morphologically characterized by the appearance of oligodendroglial-like cells.

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“…Eight cases, microscopic features of which meet the diagnostic criteria of astroblastoma defined by the 2016 WHO CNS tumor classification , were selected from the pathology files of the institutes of the authors. Two (Cases 3 and 6) have already been reported elsewhere . This research was approved by the Ethics Committee of Gunma University.…”

Section: Methodsmentioning

confidence: 99%

Astroblastoma: a distinct tumor entity characterized by alterations of the X chromosome and MN1 rearrangement

et al. 2017

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Astroblastoma is a rare, enigmatic tumor of the central nervous system (CNS) which shares some clinicopathologic aspects with other CNS tumors, especially ependymoma. To further clarify the nature of astroblastoma, we performed clinicopathologic and molecular genetic studies on eight cases of astroblastoma. The median age of the patients was 14.5 years, ranging from 5 to 60 years, and seven of the patients were female. All tumors arose in the cerebral hemisphere and radiologically appeared to be well-bordered, nodular tumors often associated with cystic areas and contrast-enhancement. Six of the seven patients with prognosis data survived without recurrences during the follow-up periods ranging from six to 76 months. One patient had multiple recurrences and died six years later. All tumors exhibited salient microscopic features, such as being well demarcated from the surrounding brain tissue, perivascular arrangement of epithelioid tumor cells (represented by "astroblastic" pseudorosettes, trabecular alignment, and pseudopapillary patterns), and hyalinized blood vessels. Immunoreactivity for GFAP, S-100 protein, Olig2, and EMA was variably demonstrated in all tumors, and IDH1 R132H and L1CAM were negative. Array comparative genomic hybridization revealed numerous heterozygous deletions on chromosome X in the four tumors studied, and break-apart fluorescence in situ hybridization demonstrated rearrangement of MN1 in five tumors with successful testing. The characteristic clinicopathologic and genetic findings support the idea that astroblastoma is distinct from other CNS tumors, in particular, ependymoma. In addition, MN1 rearrangement and aberrations of chromosome X may partly be involved in the pathogenesis of astroblastoma.

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A case of cerebral astroblastoma with rhabdoid features: a cytological, histological, and immunohistochemical study

Cited by 18 publications

References 32 publications

Multimodal molecular analysis of astroblastoma enables reclassification of most cases into more specific molecular entities

Multimodal molecular analysis of astroblastoma enables reclassification of most cases into more specific molecular entities

Cerebral astroblastoma with oligodendroglial-like cells：A case report

Astroblastoma: a distinct tumor entity characterized by alterations of the X chromosome and MN1 rearrangement

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