{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T10:23:29Z","timestamp":1782383009301,"version":"3.54.5"},"reference-count":21,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,9,3]],"date-time":"2024-09-03T00:00:00Z","timestamp":1725321600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,9,3]],"date-time":"2024-09-03T00:00:00Z","timestamp":1725321600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["acta neuropathol commun"],"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Neuroepithelial tumors with fusion of <jats:italic>PLAGL1<\/jats:italic> or amplification of <jats:italic>PLAGL1\/PLAGL2<\/jats:italic> have recently been described often with ependymoma-like or embryonal histology respectively. To further evaluate emerging entities with PLAG-family genetic alterations, the histologic, molecular, clinical, and imaging features are described for 8 clinical cases encountered at St. Jude (<jats:italic>EWSR1-PLAGL1<\/jats:italic> fusion n\u2009=\u20096; <jats:italic>PLAGL1<\/jats:italic> amplification n\u2009=\u20091; <jats:italic>PLAGL2<\/jats:italic> amplification n\u2009=\u20091). A histologic feature observed on initial resection in a subset (4\/6) of supratentorial neuroepithelial tumors with <jats:italic>EWSR1-PLAGL1<\/jats:italic> rearrangement was the presence of concurrent ependymal and ganglionic differentiation. This ranged from prominent clusters of ganglion cells within ependymoma\/subependymoma-like areas, to interspersed ganglion cells of low to moderate frequency among otherwise ependymal-like histology, or focal areas with a ganglion cell component. When present, the combination of ependymal-like and ganglionic features within a supratentorial neuroepithelial tumor may raise consideration for an <jats:italic>EWSR1-PLAGL1<\/jats:italic> fusion, and prompt initiation of appropriate molecular testing such as RNA sequencing and methylation profiling. One of the <jats:italic>EWSR1-PLAGL1<\/jats:italic> fusion cases showed subclonal INI1 loss in a region containing small clusters of rhabdoid\/embryonal cells, and developed a prominent ganglion cell component on recurrence. As such, <jats:italic>EWSR1-PLAGL1<\/jats:italic> neuroepithelial tumors are a tumor type in which acquired inactivation of <jats:italic>SMARCB1<\/jats:italic> and development of AT\/RT features may occur and lead to clinical progression. In contrast, the <jats:italic>PLAGL2 and PLAGL1<\/jats:italic> amplified cases showed either embryonal histology or contained an embryonal component with a significant degree of desmin staining, which could also serve to raise consideration for a PLAG entity when present. Continued compilation of associated clinical data and histopathologic findings will be critical for understanding emerging entities with PLAG-family genetic alterations.<\/jats:p>","DOI":"10.1186\/s40478-024-01809-9","type":"journal-article","created":{"date-parts":[[2024,9,3]],"date-time":"2024-09-03T09:03:38Z","timestamp":1725354218000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Concurrent ependymal and ganglionic differentiation in a subset of supratentorial neuroepithelial tumors with EWSR1-PLAGL1 rearrangement"],"prefix":"10.1186","volume":"12","author":[{"given":"Julieann C.","family":"Lee","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Selene C.","family":"Koo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Larissa V.","family":"Furtado","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alex","family":"Breuer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad K.","family":"Eldomery","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asim K.","family":"Bag","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pat","family":"Stow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gary","family":"Rose","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Trisha","family":"Larkin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rick","family":"Sances","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bette K.","family":"Kleinschmidt-DeMasters","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenna L.","family":"Bodmer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas","family":"Willard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Murat","family":"Gokden","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonika","family":"Dahiya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaleigh","family":"Roberts","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kelsey C.","family":"Bertrand","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel C.","family":"Moreira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giles W.","family":"Robinson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun Qin","family":"Mo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David W.","family":"Ellison","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brent A.","family":"Orr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,9,3]]},"reference":[{"issue":"11","key":"1809_CR1","doi-asserted-by":"publisher","first-page":"bio038661","DOI":"10.1242\/bio.038661","volume":"7","author":"L Adnani","year":"2018","unstructured":"Adnani L, Dixit R, Chen X, Balakrishnan A, Modi H, Touahri Y, Logan C, Schuurmans C (2018) Plag1\u00a0and\u00a0Plagl2\u00a0have overlapping and distinct functions in telencephalic development. 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The research project was approved by the institutional review board (IRB) of St. Jude Children\u2019s Research Hospital and was determined to be exempt from family consent and full IRB review. The risk of inadvertent re-identification of patients was assessed during the IRB review process and appropriate protections were deemed to be in place\u00a0to minimize that risk.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"The authors declare they have no competing interests related to this study.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"143"}}