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000296129 245__ $$aVGLL-fusions define a new class of intraparenchymal CNS schwannoma.
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000296129 520__ $$aIntracerebral schwannomas are rare tumors resembling their peripheral nerve sheath counterparts but localized in the CNS. They are not classified as a separate tumor type in the 2021 WHO classification. This study aimed to compile and characterize these rare neoplasms morphologically and molecularly.We analyzed 20 tumor samples by histology, RNA Next-Generation Sequencing, DNA-methylation profiling, copy number analyses, and single nucleus RNA sequencing (snRNA-seq). Clinical data, including age, sex, and disease progression, were collected. MRI series were included when available.All cases with tissue available for histology review (n=13) were morphologically consistent with intracerebral schwannoma, but differed in their extent of GFAP staining. All (n=20) shared DNA-methylation profiles distinct from other CNS tumors, as well as from VGLL-altered peripheral nerve sheath tumors. Most cases (n=14/17) harbored fusions of either VGLL3 or VGLL1 (CHD7::VGLL3 (n=9/17) and EWSR1::VGLL1 (n=5/17)). In two cases the presence of a VGLL3 fusion was also confirmed by CNA analyses (n=2/17). MRI (n=4) showed well-defined, nodular tumors with strong, homogeneous enhancement and no diffusion restriction. Tumors were located throughout the neuroaxis [supratentorial (n=15), infratentorial (n=4), and spinal (n=1)]. snRNA-seq of a VGLL1-fused tumor indicated VGLL1 upregulation in 28.6% of tumor cells (n=1). During median follow-up of 1.8 years (range 3 months-9 years), none of the tumors recurred (n=10).We identify and define a new benign tumor class, designated VGLL-altered intraparenchymal CNS schwannomas. These tumors feature VGLL alterations and a specific DNA-methylation profile, with schwannoma-like histopathology and CNS localization, akin to previously classified intracerebral schwannomas.
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000296129 650_7 $$2Other$$aVGLL
000296129 650_7 $$2Other$$agliofibroma
000296129 650_7 $$2Other$$aglioma
000296129 650_7 $$2Other$$aschwannoma
000296129 650_7 $$2Other$$atumor
000296129 7001_ $$00000-0002-7371-7059$$aMirchia, Kanish$$b1
000296129 7001_ $$aTietze, Anna$$b2
000296129 7001_ $$00000-0002-6186-3630$$aLiu, Ilon$$b3
000296129 7001_ $$aSiewert, Christin$$b4
000296129 7001_ $$aNückles, Jakob$$b5
000296129 7001_ $$00000-0002-9168-6209$$aSchittenhelm, Jens$$b6
000296129 7001_ $$aBehling, Felix$$b7
000296129 7001_ $$00000-0003-0752-0917$$aSnuderl, Matija$$b8
000296129 7001_ $$aHartmann, Christian$$b9
000296129 7001_ $$00000-0002-9821-0342$$aBrandner, Sebastian$$b10
000296129 7001_ $$00000-0002-1434-3931$$aPaine, Simon M L$$b11
000296129 7001_ $$0P:(DE-He78)8d9c904a6cea14d4c99c78ba46e41f93$$aKorshunov, Andrey$$b12$$udkfz
000296129 7001_ $$00000-0003-2707-8484$$aHasselblatt, Martin$$b13
000296129 7001_ $$aCoras, Roland$$b14
000296129 7001_ $$00000-0002-1038-5755$$aEpari, Sridhar$$b15
000296129 7001_ $$00000-0003-1766-5458$$aStadelmann, Christine$$b16
000296129 7001_ $$00000-0001-5385-2766$$aZechel, Sabrina$$b17
000296129 7001_ $$aSimon, Michèle$$b18
000296129 7001_ $$00000-0003-1725-0041$$aWilson, Yelena$$b19
000296129 7001_ $$00000-0002-6223-9952$$aGianno, Francesca$$b20
000296129 7001_ $$aCalixto-Hope, G Lucas$$b21
000296129 7001_ $$aZherebitskiy, Viktor$$b22
000296129 7001_ $$aKaimaktchiev, Vassil B$$b23
000296129 7001_ $$00009-0005-1098-4909$$aRobinson, Lorraina$$b24
000296129 7001_ $$00000-0001-5119-7550$$aAldape, Kenneth$$b25
000296129 7001_ $$aHoving, Eelco W$$b26
000296129 7001_ $$aTops, Bastiaan B J$$b27
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000296129 7001_ $$aHernáiz Driever, Pablo$$b30
000296129 7001_ $$aWesseling, Pieter$$b31
000296129 7001_ $$00000-0001-8589-4688$$aKoch, Arend$$b32
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