Cargando…
Rare Recurrent EWSR1-PLAGL1 Rearranged Intracranial Tumor With Biphasic Epithelioid Differentiation: One Case Report With Literature Review
EWSR1-rearranged tumors encompass a rare and heterogeneous group of entities with features of the central nervous system (CNS) mesenchymal and primary glial/neuronal tumors. EWSR1-PLAGL1 gene fusion is a particularly rare form of rearrangement. We presented a recurrent intracranial EWSR1-PLAGL1 rear...
Autores principales: | , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9329790/ https://www.ncbi.nlm.nih.gov/pubmed/35912228 http://dx.doi.org/10.3389/fonc.2022.938385 |
_version_ | 1784758000657891328 |
---|---|
author | Xing, Ai-yan Yang, Wen-wei Liu, Yu-lu Sun, Nan-nan Hao, Xiao-meng Wang, Su-xia Mu, Kun |
author_facet | Xing, Ai-yan Yang, Wen-wei Liu, Yu-lu Sun, Nan-nan Hao, Xiao-meng Wang, Su-xia Mu, Kun |
author_sort | Xing, Ai-yan |
collection | PubMed |
description | EWSR1-rearranged tumors encompass a rare and heterogeneous group of entities with features of the central nervous system (CNS) mesenchymal and primary glial/neuronal tumors. EWSR1-PLAGL1 gene fusion is a particularly rare form of rearrangement. We presented a recurrent intracranial EWSR1-PLAGL1 rearranged tumor and reviewed the relevant literature. In this case, histopathology and immunohistochemistry (IHC) were evaluated for both the primary and relapsed tumors. Fluorescence in situ hybridization (FISH) and next-generation sequencing (NGS) were performed for the relapsed tumor. We compared the morphology, IHC results and molecular features with the previously reported EWSR1-PLAGL1 rearranged CNS tumors. Our case exhibited a unique feature with a variable biphasic pattern of epithelioid differentiation, which differed from the two reported groups. The primary and relapsed tumors both expressed cytokeratin of the focal area with epithelioid differentiation. The recurrent tumor showed an increased proliferation index (average Ki-67 index of 15%) compared with the primary tumor (average Ki-67 index of 5%). NGS showed that TERT promoter mutation was the only molecular change besides EWSR1-PLAGL1 fusion. Our study provides further insight into intracranial tumors with EWSR1-PLAGL1 fusion, representing a distinct CNS tumor with no-reported histological and immunohistochemical features. Future studies, particularly for the biphasic differentiation and the role of TERT promoter mutation were needed to clarify this unusual chromosomal rearrangement in the CNS tumor. |
format | Online Article Text |
id | pubmed-9329790 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-93297902022-07-29 Rare Recurrent EWSR1-PLAGL1 Rearranged Intracranial Tumor With Biphasic Epithelioid Differentiation: One Case Report With Literature Review Xing, Ai-yan Yang, Wen-wei Liu, Yu-lu Sun, Nan-nan Hao, Xiao-meng Wang, Su-xia Mu, Kun Front Oncol Oncology EWSR1-rearranged tumors encompass a rare and heterogeneous group of entities with features of the central nervous system (CNS) mesenchymal and primary glial/neuronal tumors. EWSR1-PLAGL1 gene fusion is a particularly rare form of rearrangement. We presented a recurrent intracranial EWSR1-PLAGL1 rearranged tumor and reviewed the relevant literature. In this case, histopathology and immunohistochemistry (IHC) were evaluated for both the primary and relapsed tumors. Fluorescence in situ hybridization (FISH) and next-generation sequencing (NGS) were performed for the relapsed tumor. We compared the morphology, IHC results and molecular features with the previously reported EWSR1-PLAGL1 rearranged CNS tumors. Our case exhibited a unique feature with a variable biphasic pattern of epithelioid differentiation, which differed from the two reported groups. The primary and relapsed tumors both expressed cytokeratin of the focal area with epithelioid differentiation. The recurrent tumor showed an increased proliferation index (average Ki-67 index of 15%) compared with the primary tumor (average Ki-67 index of 5%). NGS showed that TERT promoter mutation was the only molecular change besides EWSR1-PLAGL1 fusion. Our study provides further insight into intracranial tumors with EWSR1-PLAGL1 fusion, representing a distinct CNS tumor with no-reported histological and immunohistochemical features. Future studies, particularly for the biphasic differentiation and the role of TERT promoter mutation were needed to clarify this unusual chromosomal rearrangement in the CNS tumor. Frontiers Media S.A. 2022-07-14 /pmc/articles/PMC9329790/ /pubmed/35912228 http://dx.doi.org/10.3389/fonc.2022.938385 Text en Copyright © 2022 Xing, Yang, Liu, Sun, Hao, Wang and Mu https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Oncology Xing, Ai-yan Yang, Wen-wei Liu, Yu-lu Sun, Nan-nan Hao, Xiao-meng Wang, Su-xia Mu, Kun Rare Recurrent EWSR1-PLAGL1 Rearranged Intracranial Tumor With Biphasic Epithelioid Differentiation: One Case Report With Literature Review |
title | Rare Recurrent EWSR1-PLAGL1 Rearranged Intracranial Tumor With Biphasic Epithelioid Differentiation: One Case Report With Literature Review |
title_full | Rare Recurrent EWSR1-PLAGL1 Rearranged Intracranial Tumor With Biphasic Epithelioid Differentiation: One Case Report With Literature Review |
title_fullStr | Rare Recurrent EWSR1-PLAGL1 Rearranged Intracranial Tumor With Biphasic Epithelioid Differentiation: One Case Report With Literature Review |
title_full_unstemmed | Rare Recurrent EWSR1-PLAGL1 Rearranged Intracranial Tumor With Biphasic Epithelioid Differentiation: One Case Report With Literature Review |
title_short | Rare Recurrent EWSR1-PLAGL1 Rearranged Intracranial Tumor With Biphasic Epithelioid Differentiation: One Case Report With Literature Review |
title_sort | rare recurrent ewsr1-plagl1 rearranged intracranial tumor with biphasic epithelioid differentiation: one case report with literature review |
topic | Oncology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9329790/ https://www.ncbi.nlm.nih.gov/pubmed/35912228 http://dx.doi.org/10.3389/fonc.2022.938385 |
work_keys_str_mv | AT xingaiyan rarerecurrentewsr1plagl1rearrangedintracranialtumorwithbiphasicepithelioiddifferentiationonecasereportwithliteraturereview AT yangwenwei rarerecurrentewsr1plagl1rearrangedintracranialtumorwithbiphasicepithelioiddifferentiationonecasereportwithliteraturereview AT liuyulu rarerecurrentewsr1plagl1rearrangedintracranialtumorwithbiphasicepithelioiddifferentiationonecasereportwithliteraturereview AT sunnannan rarerecurrentewsr1plagl1rearrangedintracranialtumorwithbiphasicepithelioiddifferentiationonecasereportwithliteraturereview AT haoxiaomeng rarerecurrentewsr1plagl1rearrangedintracranialtumorwithbiphasicepithelioiddifferentiationonecasereportwithliteraturereview AT wangsuxia rarerecurrentewsr1plagl1rearrangedintracranialtumorwithbiphasicepithelioiddifferentiationonecasereportwithliteraturereview AT mukun rarerecurrentewsr1plagl1rearrangedintracranialtumorwithbiphasicepithelioiddifferentiationonecasereportwithliteraturereview |