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| Content Provider | Springer Nature : BioMed Central |
|---|---|
| Author | Lee, Julieann C. Koo, Selene C. Furtado, Larissa V. Breuer, Alex Eldomery, Mohammad K. Bag, Asim K. Stow, Pat Rose, Gary Larkin, Trisha Sances, Rick Kleinschmidt-DeMasters, Bette K. Bodmer, Jenna L. Willard, Nicholas Gokden, Murat Dahiya, Sonika Roberts, Kaleigh Bertrand, Kelsey C. Moreira, Daniel C. Robinson, Giles W. Mo, Jun Qin Ellison, David W. Orr, Brent A. |
| Abstract | Neuroepithelial tumors with fusion of PLAGL1 or amplification of PLAGL1/PLAGL2 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 (EWSR1-PLAGL1 fusion n = 6; PLAGL1 amplification n = 1; PLAGL2 amplification n = 1). A histologic feature observed on initial resection in a subset (4/6) of supratentorial neuroepithelial tumors with EWSR1-PLAGL1 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 EWSR1-PLAGL1 fusion, and prompt initiation of appropriate molecular testing such as RNA sequencing and methylation profiling. One of the EWSR1-PLAGL1 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, EWSR1-PLAGL1 neuroepithelial tumors are a tumor type in which acquired inactivation of SMARCB1 and development of AT/RT features may occur and lead to clinical progression. In contrast, the PLAGL2 and PLAGL1 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. |
| Related Links | https://actaneurocomms.biomedcentral.com/counter/pdf/10.1186/s40478-024-01809-9.pdf |
| Ending Page | 14 |
| Page Count | 14 |
| Starting Page | 1 |
| File Format | HTM / HTML |
| ISSN | 20515960 |
| DOI | 10.1186/s40478-024-01809-9 |
| Journal | Acta Neuropathologica Communications |
| Issue Number | 1 |
| Volume Number | 12 |
| Language | English |
| Publisher | BioMed Central |
| Publisher Date | 2024-09-03 |
| Access Restriction | Open |
| Subject Keyword | Neurosciences Pathology Neurology PLAGL1 PLAGL2 EWSR1-PLAGL1 Ganglionic differentiation Ependymal-like Neuroepithelial tumor |
| Content Type | Text |
| Resource Type | Article |
| Subject | Pathology and Forensic Medicine Neurology (clinical) Cellular and Molecular Neuroscience |
| Journal Impact Factor | 6.2/2023 |
| 5-Year Journal Impact Factor | 6.8/2023 |
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