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...
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2022-07-01
|
| Series: | Frontiers in Oncology |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fonc.2022.938385/full |
| _version_ | 1818487663144992768 |
|---|---|
| author | Ai-yan Xing Wen-wei Yang Yu-lu Liu Nan-nan Sun Xiao-meng Hao Su-xia Wang Kun Mu Kun Mu |
| author_facet | Ai-yan Xing Wen-wei Yang Yu-lu Liu Nan-nan Sun Xiao-meng Hao Su-xia Wang Kun Mu Kun Mu |
| author_sort | Ai-yan Xing |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-10T16:41:08Z |
| format | Article |
| id | doaj.art-4ed9c737528c46918cc20db017c16e3d |
| institution | Directory Open Access Journal |
| issn | 2234-943X |
| language | English |
| last_indexed | 2024-12-10T16:41:08Z |
| publishDate | 2022-07-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Oncology |
| spelling | doaj.art-4ed9c737528c46918cc20db017c16e3d2022-12-22T01:41:13ZengFrontiers Media S.A.Frontiers in Oncology2234-943X2022-07-011210.3389/fonc.2022.938385938385Rare Recurrent EWSR1-PLAGL1 Rearranged Intracranial Tumor With Biphasic Epithelioid Differentiation: One Case Report With Literature ReviewAi-yan Xing0Wen-wei Yang1Yu-lu Liu2Nan-nan Sun3Xiao-meng Hao4Su-xia Wang5Kun Mu6Kun Mu7Department of Pathology, Qilu Hospital of Shandong University, Jinan, ChinaDepartment of Medical Oncology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, ChinaDepartment of Pathology, Qilu Hospital of Shandong University, Jinan, ChinaDepartment of Pathology, Qilu Hospital of Shandong University, Jinan, ChinaDepartment of Pathology, Qilu Hospital of Shandong University, Jinan, ChinaDepartment of Pathology, The Affiliated Yantai Yuhuangding Hospital of Qingdao University, Yantai, ChinaDepartment of Pathology, Qilu Hospital of Shandong University, Jinan, ChinaDepartment of Pathology, School of Basic Medical Sciences, Shandong University, Jinan, ChinaEWSR1-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.https://www.frontiersin.org/articles/10.3389/fonc.2022.938385/fullEWSR1-PLAGL1 fusionintracranial tumorsrecurrencebiphasic differentiationTERT |
| spellingShingle | Ai-yan Xing Wen-wei Yang Yu-lu Liu Nan-nan Sun Xiao-meng Hao Su-xia Wang Kun Mu Kun Mu Rare Recurrent EWSR1-PLAGL1 Rearranged Intracranial Tumor With Biphasic Epithelioid Differentiation: One Case Report With Literature Review Frontiers in Oncology EWSR1-PLAGL1 fusion intracranial tumors recurrence biphasic differentiation TERT |
| 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 | EWSR1-PLAGL1 fusion intracranial tumors recurrence biphasic differentiation TERT |
| url | https://www.frontiersin.org/articles/10.3389/fonc.2022.938385/full |
| work_keys_str_mv | AT aiyanxing rarerecurrentewsr1plagl1rearrangedintracranialtumorwithbiphasicepithelioiddifferentiationonecasereportwithliteraturereview AT wenweiyang rarerecurrentewsr1plagl1rearrangedintracranialtumorwithbiphasicepithelioiddifferentiationonecasereportwithliteraturereview AT yululiu rarerecurrentewsr1plagl1rearrangedintracranialtumorwithbiphasicepithelioiddifferentiationonecasereportwithliteraturereview AT nannansun rarerecurrentewsr1plagl1rearrangedintracranialtumorwithbiphasicepithelioiddifferentiationonecasereportwithliteraturereview AT xiaomenghao rarerecurrentewsr1plagl1rearrangedintracranialtumorwithbiphasicepithelioiddifferentiationonecasereportwithliteraturereview AT suxiawang rarerecurrentewsr1plagl1rearrangedintracranialtumorwithbiphasicepithelioiddifferentiationonecasereportwithliteraturereview AT kunmu rarerecurrentewsr1plagl1rearrangedintracranialtumorwithbiphasicepithelioiddifferentiationonecasereportwithliteraturereview AT kunmu rarerecurrentewsr1plagl1rearrangedintracranialtumorwithbiphasicepithelioiddifferentiationonecasereportwithliteraturereview |