Case report: A unique presentation of a high-grade neuroepithelial tumor with EWSR1::PATZ1 fusion with diagnostic, molecular, and therapeutic insights
BackgroundEWSR1::PATZ1 fusion tumors are exceedingly rare in the central nervous system with only 14 prior cases documented. PATZ1 fusion neuroepithelial tumors are beginning to be recognized as a distinct molecular class of neoplasms that most often occur in children and young adults. These tumors...
| Main Authors: | , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2023-01-01
|
| Series: | Frontiers in Oncology |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fonc.2023.1094274/full |
| _version_ | 1797938663909228544 |
|---|---|
| author | Andre Ene Jing Di Janna H. Neltner Thomas Pittman Susanne M. Arnold Susanne M. Arnold Jill M. Kolesar Jill M. Kolesar John L. Villano John L. Villano John L. Villano Sara E. Bachert Sara E. Bachert Derek B. Allison Derek B. Allison |
| author_facet | Andre Ene Jing Di Janna H. Neltner Thomas Pittman Susanne M. Arnold Susanne M. Arnold Jill M. Kolesar Jill M. Kolesar John L. Villano John L. Villano John L. Villano Sara E. Bachert Sara E. Bachert Derek B. Allison Derek B. Allison |
| author_sort | Andre Ene |
| collection | DOAJ |
| description | BackgroundEWSR1::PATZ1 fusion tumors are exceedingly rare in the central nervous system with only 14 prior cases documented. PATZ1 fusion neuroepithelial tumors are beginning to be recognized as a distinct molecular class of neoplasms that most often occur in children and young adults. These tumors are polyphenotypic, show diverse morphologic features, may be low- or high-grade, and tend to have an intermediate prognosis.Case presentationHerein, we present an unusual case of a high-grade neuroepithelial tumor in a young man with an EWSR1::PATZ1 fusion. This case is unique because the tumor appears to have undergone high-grade transformation from a persistent low-grade glioma, which has yet to be reported. Furthermore, this case is the first to document concurrent RB1 loss, SMAD4 loss, and TP53 inactivation in this tumor type, which correlates with high-grade transformation. Fortunately, this patient is alive 2.5 years after treatment and 18.5 years after initial presentation, which provides a unique window into how these tumors clinically behave over a long follow-up period. Finally, we discuss the altered molecular pathways that are a result of the EWSR1::PATZ1 fusion and discuss potential therapeutic targets.ConclusionAwareness of the emerging entity of PATZ1 fusion neuroepithelial tumors is important not only for accurate diagnostic and prognostic purposes but also for predicting response to therapy. |
| first_indexed | 2024-04-10T19:04:15Z |
| format | Article |
| id | doaj.art-283b85944cbb434a9576dffac41b0fb1 |
| institution | Directory Open Access Journal |
| issn | 2234-943X |
| language | English |
| last_indexed | 2024-04-10T19:04:15Z |
| publishDate | 2023-01-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Oncology |
| spelling | doaj.art-283b85944cbb434a9576dffac41b0fb12023-01-31T05:35:58ZengFrontiers Media S.A.Frontiers in Oncology2234-943X2023-01-011310.3389/fonc.2023.10942741094274Case report: A unique presentation of a high-grade neuroepithelial tumor with EWSR1::PATZ1 fusion with diagnostic, molecular, and therapeutic insightsAndre Ene0Jing Di1Janna H. Neltner2Thomas Pittman3Susanne M. Arnold4Susanne M. Arnold5Jill M. Kolesar6Jill M. Kolesar7John L. Villano8John L. Villano9John L. Villano10Sara E. Bachert11Sara E. Bachert12Derek B. Allison13Derek B. Allison14Department of Pathology and Laboratory Medicine, University of Kentucky, Lexington, KY, United StatesDepartment of Pathology and Laboratory Medicine, University of Kentucky, Lexington, KY, United StatesDepartment of Pathology and Laboratory Medicine, University of Kentucky, Lexington, KY, United StatesDepartment of Neurosurgery, University of Kentucky, Lexington, KY, United StatesDepartment of Medicine, Division of Medical Oncology, University of Kentucky, Lexington, KY, United StatesMarkey Cancer Center, University of Kentucky, Lexington, KY, United StatesMarkey Cancer Center, University of Kentucky, Lexington, KY, United StatesDepartment of Pharmacy Practice and Science, University of Kentucky, Lexington, KY, United StatesDepartment of Neurosurgery, University of Kentucky, Lexington, KY, United StatesDepartment of Medicine, Division of Medical Oncology, University of Kentucky, Lexington, KY, United StatesMarkey Cancer Center, University of Kentucky, Lexington, KY, United StatesDepartment of Pathology and Laboratory Medicine, University of Kentucky, Lexington, KY, United StatesMarkey Cancer Center, University of Kentucky, Lexington, KY, United StatesDepartment of Pathology and Laboratory Medicine, University of Kentucky, Lexington, KY, United StatesMarkey Cancer Center, University of Kentucky, Lexington, KY, United StatesBackgroundEWSR1::PATZ1 fusion tumors are exceedingly rare in the central nervous system with only 14 prior cases documented. PATZ1 fusion neuroepithelial tumors are beginning to be recognized as a distinct molecular class of neoplasms that most often occur in children and young adults. These tumors are polyphenotypic, show diverse morphologic features, may be low- or high-grade, and tend to have an intermediate prognosis.Case presentationHerein, we present an unusual case of a high-grade neuroepithelial tumor in a young man with an EWSR1::PATZ1 fusion. This case is unique because the tumor appears to have undergone high-grade transformation from a persistent low-grade glioma, which has yet to be reported. Furthermore, this case is the first to document concurrent RB1 loss, SMAD4 loss, and TP53 inactivation in this tumor type, which correlates with high-grade transformation. Fortunately, this patient is alive 2.5 years after treatment and 18.5 years after initial presentation, which provides a unique window into how these tumors clinically behave over a long follow-up period. Finally, we discuss the altered molecular pathways that are a result of the EWSR1::PATZ1 fusion and discuss potential therapeutic targets.ConclusionAwareness of the emerging entity of PATZ1 fusion neuroepithelial tumors is important not only for accurate diagnostic and prognostic purposes but also for predicting response to therapy.https://www.frontiersin.org/articles/10.3389/fonc.2023.1094274/fullbrain tumorneurooncologypediatricneuroepithelialPATZ1EWSR1 |
| spellingShingle | Andre Ene Jing Di Janna H. Neltner Thomas Pittman Susanne M. Arnold Susanne M. Arnold Jill M. Kolesar Jill M. Kolesar John L. Villano John L. Villano John L. Villano Sara E. Bachert Sara E. Bachert Derek B. Allison Derek B. Allison Case report: A unique presentation of a high-grade neuroepithelial tumor with EWSR1::PATZ1 fusion with diagnostic, molecular, and therapeutic insights Frontiers in Oncology brain tumor neurooncology pediatric neuroepithelial PATZ1 EWSR1 |
| title | Case report: A unique presentation of a high-grade neuroepithelial tumor with EWSR1::PATZ1 fusion with diagnostic, molecular, and therapeutic insights |
| title_full | Case report: A unique presentation of a high-grade neuroepithelial tumor with EWSR1::PATZ1 fusion with diagnostic, molecular, and therapeutic insights |
| title_fullStr | Case report: A unique presentation of a high-grade neuroepithelial tumor with EWSR1::PATZ1 fusion with diagnostic, molecular, and therapeutic insights |
| title_full_unstemmed | Case report: A unique presentation of a high-grade neuroepithelial tumor with EWSR1::PATZ1 fusion with diagnostic, molecular, and therapeutic insights |
| title_short | Case report: A unique presentation of a high-grade neuroepithelial tumor with EWSR1::PATZ1 fusion with diagnostic, molecular, and therapeutic insights |
| title_sort | case report a unique presentation of a high grade neuroepithelial tumor with ewsr1 patz1 fusion with diagnostic molecular and therapeutic insights |
| topic | brain tumor neurooncology pediatric neuroepithelial PATZ1 EWSR1 |
| url | https://www.frontiersin.org/articles/10.3389/fonc.2023.1094274/full |
| work_keys_str_mv | AT andreene casereportauniquepresentationofahighgradeneuroepithelialtumorwithewsr1patz1fusionwithdiagnosticmolecularandtherapeuticinsights AT jingdi casereportauniquepresentationofahighgradeneuroepithelialtumorwithewsr1patz1fusionwithdiagnosticmolecularandtherapeuticinsights AT jannahneltner casereportauniquepresentationofahighgradeneuroepithelialtumorwithewsr1patz1fusionwithdiagnosticmolecularandtherapeuticinsights AT thomaspittman casereportauniquepresentationofahighgradeneuroepithelialtumorwithewsr1patz1fusionwithdiagnosticmolecularandtherapeuticinsights AT susannemarnold casereportauniquepresentationofahighgradeneuroepithelialtumorwithewsr1patz1fusionwithdiagnosticmolecularandtherapeuticinsights AT susannemarnold casereportauniquepresentationofahighgradeneuroepithelialtumorwithewsr1patz1fusionwithdiagnosticmolecularandtherapeuticinsights AT jillmkolesar casereportauniquepresentationofahighgradeneuroepithelialtumorwithewsr1patz1fusionwithdiagnosticmolecularandtherapeuticinsights AT jillmkolesar casereportauniquepresentationofahighgradeneuroepithelialtumorwithewsr1patz1fusionwithdiagnosticmolecularandtherapeuticinsights AT johnlvillano casereportauniquepresentationofahighgradeneuroepithelialtumorwithewsr1patz1fusionwithdiagnosticmolecularandtherapeuticinsights AT johnlvillano casereportauniquepresentationofahighgradeneuroepithelialtumorwithewsr1patz1fusionwithdiagnosticmolecularandtherapeuticinsights AT johnlvillano casereportauniquepresentationofahighgradeneuroepithelialtumorwithewsr1patz1fusionwithdiagnosticmolecularandtherapeuticinsights AT saraebachert casereportauniquepresentationofahighgradeneuroepithelialtumorwithewsr1patz1fusionwithdiagnosticmolecularandtherapeuticinsights AT saraebachert casereportauniquepresentationofahighgradeneuroepithelialtumorwithewsr1patz1fusionwithdiagnosticmolecularandtherapeuticinsights AT derekballison casereportauniquepresentationofahighgradeneuroepithelialtumorwithewsr1patz1fusionwithdiagnosticmolecularandtherapeuticinsights AT derekballison casereportauniquepresentationofahighgradeneuroepithelialtumorwithewsr1patz1fusionwithdiagnosticmolecularandtherapeuticinsights |