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• W4317480265 abstract "An 11-year-old previously healthy girl presented with acute cerebral symptoms in the form of headache and vomiting two to three times a day, bringing relief. MRI of the brain revealed a pathological cystic formation in the left frontoparietal region, of an oval shape with clear, partly uneven outlines and a total size of 35 × 44 × 31 mm, intensively accumulating the contrast agent along the periphery. The lesion exerted a pronounced mass effect, displacing the median structures to the right by 9 mm and squeezing the left lateral ventricle (Figure 1). The patient underwent gross total resection. MRI of the brain and spinal cord showed no metastatic spread of the tumor. Cytological examination of the cerebrospinal fluid revealed no malignant cells. The patient received proton therapy on the resected tumor bed to a total focal dose of 59.4 Gy. Follow-up MRI and 11C-methionine PET/CT scans verified a remission of the main disease, lasting 1.6 years (Box 1). Access at https://isn-slidearchive.org/?col=ISN&fol=Archive&file=BPA-22-06-167.svs Morphological examination revealed a malignant tumor composed of ovoid cells with abundant eosinophilic cytoplasm, forming perivascular pseudorosettes and suggesting a differential diagnosis between ependymoma and astroblastoma. The tumor showed high mitotic activity (up to 5 mitotic figures in 10 visual fields at magnification 400×), microvascular proliferation and necrosis, Figure 2A. Immunohistochemically, the tumor cells tested positive for GFAP, S100, dot-like EMA, focal Synaptophysin and preserved INI1 expression, Figure 2B. Single nuclei were positive for Olig2. Immunohistochemical tests for Chromogranin A, Myelin Basic Protein, Neurofilament, Desmin, Myogenin, and MyoD1 were negative. The Ki67 proliferation index reached 20%. The morphological and immunohistochemical findings suggested a diagnosis of anaplastic ependymoma. The putative diagnosis of supratentorial ependymoma was questioned by genetic examination of the tumor tissue, which identified no ZFTA::RELA or YAP1::MAMLD1 fusions by PCR. High-throughput genomic sequencing revealed no mutations with established clinical or diagnostic significance in H3F3A, BRAF, IDH1/2, TP53, PDGFRA, TERT, or CDKN2A/B. DNA methylation profiling was thereafter performed, but results were of intermediate confidence; the tumor was classified as Neuroepithelial Tumor, PATZ1 fusion-positive with borderline score (0.79052) according to the DKFZ Brain Tumor Classifier version v12.5. The highly recurrent MN1::PATZ1 fusion was subsequently revealed by RNA sequencing (TruSeq RNA exome, Illumina), Figure 2D. The formation of the chimeric oncogene was related to copy number variations (chromothripsis) on Chromosome 22. Given the light microscopic appearance suggestive of ependymal differentiation, ultrastructural studies were performed. Transmission electron microscopy revealed loose arrangement of the cells in the abundant matrix containing dense collagen fibrils (Figure 2C). Even in hypercellular regions corresponding to perivascular pseudorosettes by light microscopy, cell-to-cell contacts/junctions were not observed. Lumina, cilia, and microvilli typical of ependymal differentiation were not present. Unusual neoplasm with glial (?) differentiation, harboring MN1::PATZ1 fusion, NEC. Neuroepithelial tumors PATZ1 fusion-positive (NET-PATZ1) are extremely rare, recently recognized, predominantly pediatric CNS tumors. Histologically, these tumors exhibit hypercellularity, rounded or spindle cell morphologies, variable nuclear shapes and eosinophilic cytoplasm. The mitotic activity is typically moderate and occasionally high. The majority of NET-PATZ1 present with endothelial proliferation and about one-third of them show pronounced necrosis recognized by formation of the perivascular astroblastoma-like pseudorosettes. Despite the range of histopathology, a common DNA methylation signature helps to identify NET-PATZ1 [1]. Chromosomal rearrangements involving PATZ1 are highly specific for NET-PATZ1. The 5′-partner genes in PATZ1 rearranged neoplasms (EWSR1 or MN1), which encode the transcription activation domain in the emerging chimeric oncoprotein, are also present in astroblastoma (MN1::BEND2, less frequently EWSR1::BEND2) and intracranial myxoid mesenchymal tumors with FET-CREB fusions (EWSR1::ATF1, EWSR1::CREB1, or EWSR1::CREM) [1, 2]. In contrast, the 3′-partner genes are disease-specific: BEND2 fusions are found in astroblastoma, whereas PATZ1 fusions act as oncogenic drivers in NET-PATZ1 regardless of the 5′-fusion partner. Identical PATZ1 fusions have been found in individual cases of extracranial spindle and round cell sarcomas, which may show variable coexpression of myogenic and neurogenic markers (S100, SOX10, and GFAP). Although PATZ1-fusion positive CNS and extra-CNS tumors may share common histopathological and immunohistochemical features, the cellular origin of NET-PATZ1 remains uncertain, wavering between glioneuronal and mesenchymal [2]. In our case, ultrastructural investigation revealed the absence of ependymal submicroscopic features and in addition showed tumor cells loosely embedded in a collagenous stroma, more typical of mesenchymal neoplasms, however myogenic immunohistochemical markers were negative. On the basis of the layered diagnostic information complying with WHO CNS5, involving high-throughput molecular technologies apart from the morphological examination, the primary diagnosis of anaplastic ependymoma in the studied clinical case was refined. At the time the integrated diagnosis of this unusual and puzzling case was completed, the patient had commenced radiotherapy in accordance with the primary diagnosis of anaplastic ependymoma. Given the limited information regarding the long-term prognosis of NET-PATZ1 tumors, it was decided to proceed with complete radiotherapy to the total focal dose of 59.4 Gy. Transmission electron microscopy studies were performed on the equipment supported by Nikon Center of Excellence at Belozersky Institute of Physico-Chemical Biology and Lomonosov Moscow State University Development program (PNR 5.13). The study was supported by Foundation for support and development in the field of Pediatric Hematology, Oncology and Immunology Science for Children. Transmission electron microscopy investigations were supported by Russian Science Foundation grant 21-75-00109. The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The Independent Ethics Committee and the Scientific Council of the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology approved the study. Written voluntary consent to the patient participation in the study was obtained from legal representative. The authors confirm that the data supporting the findings of this study are available within the article. Raw data that support the findings of this study are available from the corresponding author, upon reasonable request (see Box 1)." @default.
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• W4317480265 date "2023-01-19" @default.
• W4317480265 modified "2023-09-26" @default.
• W4317480265 title "Supratentorial tumor resembling anaplastic ependymoma in an adolescent" @default.
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