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| Home > Publications database > PATZ1 fusions define a novel molecularly distinct neuroepithelial tumor entity with a broad histological spectrum. > print |
| 001 | 170394 | ||
| 005 | 20240229133712.0 | ||
| 024 | 7 | _ | |a 10.1007/s00401-021-02354-8 |2 doi |
| 024 | 7 | _ | |a pmid:34417833 |2 pmid |
| 024 | 7 | _ | |a 0001-6322 |2 ISSN |
| 024 | 7 | _ | |a 1432-0533 |2 ISSN |
| 024 | 7 | _ | |a altmetric:112190326 |2 altmetric |
| 037 | _ | _ | |a DKFZ-2021-01903 |
| 041 | _ | _ | |a English |
| 082 | _ | _ | |a 610 |
| 100 | 1 | _ | |a Alhalabi, Karam T |0 P:(DE-HGF)0 |b 0 |e First author |
| 245 | _ | _ | |a PATZ1 fusions define a novel molecularly distinct neuroepithelial tumor entity with a broad histological spectrum. |
| 260 | _ | _ | |a Heidelberg |c 2021 |b Springer |
| 336 | 7 | _ | |a article |2 DRIVER |
| 336 | 7 | _ | |a Output Types/Journal article |2 DataCite |
| 336 | 7 | _ | |a Journal Article |b journal |m journal |0 PUB:(DE-HGF)16 |s 1642422013_11680 |2 PUB:(DE-HGF) |
| 336 | 7 | _ | |a ARTICLE |2 BibTeX |
| 336 | 7 | _ | |a JOURNAL_ARTICLE |2 ORCID |
| 336 | 7 | _ | |a Journal Article |0 0 |2 EndNote |
| 500 | _ | _ | |a #EA:B360#LA:B360# / #LA:B300# /2021 Nov;142(5):841-857 |
| 520 | _ | _ | |a Large-scale molecular profiling studies in recent years have shown that central nervous system (CNS) tumors display a much greater heterogeneity in terms of molecularly distinct entities, cellular origins and genetic drivers than anticipated from histological assessment. DNA methylation profiling has emerged as a useful tool for robust tumor classification, providing new insights into these heterogeneous molecular classes. This is particularly true for rare CNS tumors with a broad morphological spectrum, which are not possible to assign as separate entities based on histological similarity alone. Here, we describe a molecularly distinct subset of predominantly pediatric CNS neoplasms (n = 60) that harbor PATZ1 fusions. The original histological diagnoses of these tumors covered a wide spectrum of tumor types and malignancy grades. While the single most common diagnosis was glioblastoma (GBM), clinical data of the PATZ1-fused tumors showed a better prognosis than typical GBM, despite frequent relapses. RNA sequencing revealed recurrent MN1:PATZ1 or EWSR1:PATZ1 fusions related to (often extensive) copy number variations on chromosome 22, where PATZ1 and the two fusion partners are located. These fusions have individually been reported in a number of glial/glioneuronal tumors, as well as extracranial sarcomas. We show here that they are more common than previously acknowledged, and together define a biologically distinct CNS tumor type with high expression of neural development markers such as PAX2, GATA2 and IGF2. Drug screening performed on the MN1:PATZ1 fusion-bearing KS-1 brain tumor cell line revealed preliminary candidates for further study. In summary, PATZ1 fusions define a molecular class of histologically polyphenotypic neuroepithelial tumors, which show an intermediate prognosis under current treatment regimens. |
| 536 | _ | _ | |a 312 - Funktionelle und strukturelle Genomforschung (POF4-312) |0 G:(DE-HGF)POF4-312 |c POF4-312 |f POF IV |x 0 |
| 588 | _ | _ | |a Dataset connected to CrossRef, PubMed, , Journals: inrepo01.inet.dkfz-heidelberg.de |
| 650 | _ | 7 | |a Brain tumor |2 Other |
| 650 | _ | 7 | |a EWSR1 |2 Other |
| 650 | _ | 7 | |a Gene fusion |2 Other |
| 650 | _ | 7 | |a MN1 |2 Other |
| 650 | _ | 7 | |a Neuroepithelial |2 Other |
| 650 | _ | 7 | |a Neurooncology |2 Other |
| 650 | _ | 7 | |a PATZ1 |2 Other |
| 650 | _ | 7 | |a Pediatric |2 Other |
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