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| Status |
Public on Mar 10, 2023 |
| Title |
Pediatric-type high-grade neuroepithelial tumors with CIC gene fusion share a common DNA methylation signature |
| Organism |
Homo sapiens |
| Experiment type |
Methylation profiling by array
|
| Summary |
Pediatric neoplasms in the central nervous system show an extensive clinical and molecular heterogeneity. Molecular genetic testing contributes to accurate diagnosis and enables an optimal clinical management of affected children. Unsupervised visualization of genome-wide DNA methylation array data revealed a molecularly distinct type of pediatric high-grade neuroepithelial tumor with fusions involving the capicua transcriptional repressor (CIC) gene, with the most common fusion being CIC::LEUTX. Histopathological review demonstrated a morphologically heterogeneous group of high-grade neuroepithelial tumors with positive immunostaining for markers of glial differentiation in combination with weak and focal expression of synaptophysin, CD56 and CD99. In summary, we expand the spectrum of pediatric-type tumors of the CNS by reporting a previously uncharacterized group of rare high-grade neuroepithelial tumors that share a common DNA methylation signature and recurrent gene fusions involving the transcriptional repressor CIC.
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| |
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| Overall design |
DNA methylation signature
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| |
|
| Contributor(s) |
Sievers P |
| Citation(s) |
36964296 |
| Submission date |
Jan 23, 2023 |
| Last update date |
Apr 04, 2023 |
| Contact name |
Daniel Schrimpf |
| E-mail(s) |
daniel.schrimpf@med.uni-heidelberg.de
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| Organization name |
University Hospital Heidelberg, Intitute of Pathology
|
| Department |
Neuropathology
|
| Street address |
Im Neuenheimer Feld 224
|
| City |
Heidelberg |
| ZIP/Postal code |
69120 |
| Country |
Germany |
| |
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| Platforms (2) |
| GPL13534 |
Illumina HumanMethylation450 BeadChip (HumanMethylation450_15017482) |
| GPL21145 |
Infinium MethylationEPIC |
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| Samples (13)
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| Relations |
| BioProject |
PRJNA926674 |
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