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...

Descripción completa

Detalles Bibliográficos
Autores principales: Xing, Ai-yan, Yang, Wen-wei, Liu, Yu-lu, Sun, Nan-nan, Hao, Xiao-meng, Wang, Su-xia, Mu, Kun
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