التفاصيل البيبلوغرافية
| العنوان: |
Concurrent ependymal and ganglionic differentiation in a subset of supratentorial neuroepithelial tumors with EWSR1-PLAGL1 rearrangement |
| المؤلفون: |
Julieann C. Lee, Selene C. Koo, Larissa V. Furtado, Alex Breuer, Mohammad K. Eldomery, Asim K. Bag, Pat Stow, Gary Rose, Trisha Larkin, Rick Sances, Bette K. Kleinschmidt-DeMasters, Jenna L. Bodmer, Nicholas Willard, Murat Gokden, Sonika Dahiya, Kaleigh Roberts, Kelsey C. Bertrand, Daniel C. Moreira, Giles W. Robinson, Jun Qin Mo, David W. Ellison, Brent A. Orr |
| المصدر: |
Acta Neuropathologica Communications, Vol 12, Iss 1, Pp 1-14 (2024) |
| بيانات النشر: |
BMC, 2024. |
| سنة النشر: |
2024 |
| المجموعة: |
LCC:Neurology. Diseases of the nervous system |
| مصطلحات موضوعية: |
PLAGL1, PLAGL2, EWSR1-PLAGL1, Ganglionic differentiation, Ependymal-like, Neuroepithelial tumor, Neurology. Diseases of the nervous system, RC346-429 |
| الوصف: |
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. |
| نوع الوثيقة: |
article |
| وصف الملف: |
electronic resource |
| اللغة: |
English |
| تدمد: |
2051-5960 |
| Relation: |
https://doaj.org/toc/2051-5960 |
| DOI: |
10.1186/s40478-024-01809-9 |
| URL الوصول: |
https://doaj.org/article/010d827f4cd9482a8210e6cd47d6e696 |
| رقم الانضمام: |
edsdoj.010d827f4cd9482a8210e6cd47d6e696 |
| قاعدة البيانات: |
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