Case Report: Submucosal gastroblastoma with a novel PTCH1::GLI2 gene fusion in a 58-year-old man
Gastroblastoma is a rare biphasic tumor of the stomach that generally presents in young patients. MALAT1-GLI1 gene fusion was considered to be the characteristic molecular alteration of this tumor in previous reports. Herein, we described a 58-year-old man with a mass mainly located in the submucosa...
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2022-09-01
|
| Series: | Frontiers in Oncology |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fonc.2022.935914/full |
| _version_ | 1818066860111822848 |
|---|---|
| author | Cuimin Chen Junliang Lu Huanwen Wu |
| author_facet | Cuimin Chen Junliang Lu Huanwen Wu |
| author_sort | Cuimin Chen |
| collection | DOAJ |
| description | Gastroblastoma is a rare biphasic tumor of the stomach that generally presents in young patients. MALAT1-GLI1 gene fusion was considered to be the characteristic molecular alteration of this tumor in previous reports. Herein, we described a 58-year-old man with a mass mainly located in the submucosa of the stomach. Microscopic examination showed a biphasic morphology with the same immunohistochemical phenotype as gastroblastoma. Interestingly, a novel PTCH1::GLI2 fusion rather than MALAT1-GLI1 fusion was detected in the tumor by RNA-based next generation sequencing (NGS). This was the first report that demonstrated a novel PTCH1::GLI2 gene fusion in gastroblastoma, and thus expanded the molecular spectrum of this tumor. The underlying pathogenesis merits further investigation. |
| first_indexed | 2024-12-10T15:14:29Z |
| format | Article |
| id | doaj.art-a61b10f76104462980de3a8f6ab6ba56 |
| institution | Directory Open Access Journal |
| issn | 2234-943X |
| language | English |
| last_indexed | 2024-12-10T15:14:29Z |
| publishDate | 2022-09-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Oncology |
| spelling | doaj.art-a61b10f76104462980de3a8f6ab6ba562022-12-22T01:43:49ZengFrontiers Media S.A.Frontiers in Oncology2234-943X2022-09-011210.3389/fonc.2022.935914935914Case Report: Submucosal gastroblastoma with a novel PTCH1::GLI2 gene fusion in a 58-year-old manCuimin Chen0Junliang Lu1Huanwen Wu2Department of Pathology, Shenzhen Hospital of Peking University, Shenzhen, ChinaDepartment of Pathology, Peking Union Medical College Hospital, Peking, ChinaDepartment of Pathology, Peking Union Medical College Hospital, Peking, ChinaGastroblastoma is a rare biphasic tumor of the stomach that generally presents in young patients. MALAT1-GLI1 gene fusion was considered to be the characteristic molecular alteration of this tumor in previous reports. Herein, we described a 58-year-old man with a mass mainly located in the submucosa of the stomach. Microscopic examination showed a biphasic morphology with the same immunohistochemical phenotype as gastroblastoma. Interestingly, a novel PTCH1::GLI2 fusion rather than MALAT1-GLI1 fusion was detected in the tumor by RNA-based next generation sequencing (NGS). This was the first report that demonstrated a novel PTCH1::GLI2 gene fusion in gastroblastoma, and thus expanded the molecular spectrum of this tumor. The underlying pathogenesis merits further investigation.https://www.frontiersin.org/articles/10.3389/fonc.2022.935914/fullgastroblastomaPTCH1::GLI2 fusionstomachGLI1GLI2 |
| spellingShingle | Cuimin Chen Junliang Lu Huanwen Wu Case Report: Submucosal gastroblastoma with a novel PTCH1::GLI2 gene fusion in a 58-year-old man Frontiers in Oncology gastroblastoma PTCH1::GLI2 fusion stomach GLI1 GLI2 |
| title | Case Report: Submucosal gastroblastoma with a novel PTCH1::GLI2 gene fusion in a 58-year-old man |
| title_full | Case Report: Submucosal gastroblastoma with a novel PTCH1::GLI2 gene fusion in a 58-year-old man |
| title_fullStr | Case Report: Submucosal gastroblastoma with a novel PTCH1::GLI2 gene fusion in a 58-year-old man |
| title_full_unstemmed | Case Report: Submucosal gastroblastoma with a novel PTCH1::GLI2 gene fusion in a 58-year-old man |
| title_short | Case Report: Submucosal gastroblastoma with a novel PTCH1::GLI2 gene fusion in a 58-year-old man |
| title_sort | case report submucosal gastroblastoma with a novel ptch1 gli2 gene fusion in a 58 year old man |
| topic | gastroblastoma PTCH1::GLI2 fusion stomach GLI1 GLI2 |
| url | https://www.frontiersin.org/articles/10.3389/fonc.2022.935914/full |
| work_keys_str_mv | AT cuiminchen casereportsubmucosalgastroblastomawithanovelptch1gli2genefusionina58yearoldman AT junlianglu casereportsubmucosalgastroblastomawithanovelptch1gli2genefusionina58yearoldman AT huanwenwu casereportsubmucosalgastroblastomawithanovelptch1gli2genefusionina58yearoldman |