Cortically based cystic supratentorial RELA fusion-positive ependymoma: a case report with unusual presentation and appearance and review of literature
Ependymomas are rare central nervous system tumors that can arise anywhere in the neuroaxis. Supratentorial and posterior fossa ependymomas were identified as distinct diseases after extensive molecular analysis. The 2016 World Health Organization update further introduced RELA fusion-positive epend...
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2020-12-01
|
| Series: | Radiology Case Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1930043320304970 |
| _version_ | 1828878704072196096 |
|---|---|
| author | Yasmine T. Sallam, MD Qi Zhang, MBBS, PHD, FRCPC Sachin K. Pandey, MD, FRCPC |
| author_facet | Yasmine T. Sallam, MD Qi Zhang, MBBS, PHD, FRCPC Sachin K. Pandey, MD, FRCPC |
| author_sort | Yasmine T. Sallam, MD |
| collection | DOAJ |
| description | Ependymomas are rare central nervous system tumors that can arise anywhere in the neuroaxis. Supratentorial and posterior fossa ependymomas were identified as distinct diseases after extensive molecular analysis. The 2016 World Health Organization update further introduced RELA fusion-positive ependymoma as a novel entity as a subset of supratentorial ependymomas indicating the presence of C11orf95-RELA fusion genes. RELA fusion-positive ependymomas are commonly intraventricular, though they may rarely manifest as extraventricular, cortically-based tumors. They are commonly large solid, mixed solid/cystic tumors or rarely cystic. In this paper, we report a case of RELA fusion positive cortically based-cystic ependymoma and review the existing literature. Our patient is a 9-year-old boy who presented with an unusual presentation of right facial droop. He underwent gross total resection of the ependymoma, following resection, his facial droop resolved and there was no neurologic deficit. |
| first_indexed | 2024-12-13T09:11:04Z |
| format | Article |
| id | doaj.art-1a006d8908584b40b98d30d0c956d99d |
| institution | Directory Open Access Journal |
| issn | 1930-0433 |
| language | English |
| last_indexed | 2024-12-13T09:11:04Z |
| publishDate | 2020-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Radiology Case Reports |
| spelling | doaj.art-1a006d8908584b40b98d30d0c956d99d2022-12-21T23:52:56ZengElsevierRadiology Case Reports1930-04332020-12-01151224952499Cortically based cystic supratentorial RELA fusion-positive ependymoma: a case report with unusual presentation and appearance and review of literatureYasmine T. Sallam, MD0Qi Zhang, MBBS, PHD, FRCPC1Sachin K. Pandey, MD, FRCPC2Department of Medical Imaging, Schulich School of Medicine and Dentistry, Western University, 339 Windermere Road, London, ON N6A 5A5, Canada; Corresponding author.Department of Pathology and Laboratory Medicine, Schulich School of Medicine and Dentistry, Western University, London, Ontario, CanadaDepartment of Medical Imaging, Schulich School of Medicine and Dentistry, Western University, 339 Windermere Road, London, ON N6A 5A5, CanadaEpendymomas are rare central nervous system tumors that can arise anywhere in the neuroaxis. Supratentorial and posterior fossa ependymomas were identified as distinct diseases after extensive molecular analysis. The 2016 World Health Organization update further introduced RELA fusion-positive ependymoma as a novel entity as a subset of supratentorial ependymomas indicating the presence of C11orf95-RELA fusion genes. RELA fusion-positive ependymomas are commonly intraventricular, though they may rarely manifest as extraventricular, cortically-based tumors. They are commonly large solid, mixed solid/cystic tumors or rarely cystic. In this paper, we report a case of RELA fusion positive cortically based-cystic ependymoma and review the existing literature. Our patient is a 9-year-old boy who presented with an unusual presentation of right facial droop. He underwent gross total resection of the ependymoma, following resection, his facial droop resolved and there was no neurologic deficit.http://www.sciencedirect.com/science/article/pii/S1930043320304970EpendymomaSupratentorial ependymomaRELA fusionMagnetic resonance imaging |
| spellingShingle | Yasmine T. Sallam, MD Qi Zhang, MBBS, PHD, FRCPC Sachin K. Pandey, MD, FRCPC Cortically based cystic supratentorial RELA fusion-positive ependymoma: a case report with unusual presentation and appearance and review of literature Radiology Case Reports Ependymoma Supratentorial ependymoma RELA fusion Magnetic resonance imaging |
| title | Cortically based cystic supratentorial RELA fusion-positive ependymoma: a case report with unusual presentation and appearance and review of literature |
| title_full | Cortically based cystic supratentorial RELA fusion-positive ependymoma: a case report with unusual presentation and appearance and review of literature |
| title_fullStr | Cortically based cystic supratentorial RELA fusion-positive ependymoma: a case report with unusual presentation and appearance and review of literature |
| title_full_unstemmed | Cortically based cystic supratentorial RELA fusion-positive ependymoma: a case report with unusual presentation and appearance and review of literature |
| title_short | Cortically based cystic supratentorial RELA fusion-positive ependymoma: a case report with unusual presentation and appearance and review of literature |
| title_sort | cortically based cystic supratentorial rela fusion positive ependymoma a case report with unusual presentation and appearance and review of literature |
| topic | Ependymoma Supratentorial ependymoma RELA fusion Magnetic resonance imaging |
| url | http://www.sciencedirect.com/science/article/pii/S1930043320304970 |
| work_keys_str_mv | AT yasminetsallammd corticallybasedcysticsupratentorialrelafusionpositiveependymomaacasereportwithunusualpresentationandappearanceandreviewofliterature AT qizhangmbbsphdfrcpc corticallybasedcysticsupratentorialrelafusionpositiveependymomaacasereportwithunusualpresentationandappearanceandreviewofliterature AT sachinkpandeymdfrcpc corticallybasedcysticsupratentorialrelafusionpositiveependymomaacasereportwithunusualpresentationandappearanceandreviewofliterature |