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Neuroepithelial tumours with PATZ1 fusions
In this paper,a molecularly distinct subset of predominantly paediatric CNS neoplasms that harbor PATZ1 fusions are described. The paper shows that the original histological diagnoses of these tumors covered a wide spectrum of tumor types and WHOgrades. The most frequent histological diagnosis was that of a glioblastoma but the survival data showed a better prognosis compared to what was expected. RNA sequencing was the primary method used to identify the fusions, which were most frequently MN1:PATZ1 or EWSR1:PATZ1 fusions. These tumours also have a distinct methylation profile.
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Resource details
| Contributed by: | Pathology Portal |
| Authored by: |
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| Licence: | © All rights reserved More information on licences |
| First contributed: | 24 July 2022 |
| Audience access level: | Full user |
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