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| Content Provider | Springer Nature : BioMed Central |
|---|---|
| Author | Gorodezki, David Chiang, Jason Viaene, Angela N. Sievers, Philipp Schmid, Simone Holzer, Ursula Paulsen, Frank Schuhmann, Martin U. Witt, Olaf Schittenhelm, Jens Ebinger, Martin |
| Abstract | Within the past decade, incremental integration of molecular characteristics into the classification of central nervous system neoplasms increasingly facilitated precise diagnosis and advanced stratification, beyond potentially providing the foundation for advanced targeted therapies. We report a series of three cases of infant-type hemispheric glioma (IHG) involving three infants diagnosed with neuroepithelial tumors of the cerebral hemispheres harboring a novel, recurrent TRIM24::MET fusion. Histopathology showed glial tumors with either low-grade or high-grade characteristics, while molecular characterization found an additional homozygous CDKN2A/B deletion in two cases. Two patients showed leptomeningeal dissemination, while multiple supra- and infratentorial tumor manifestations were found in one case. Following subtotal resection (two cases) and biopsy (one case), treatment intensity of adjuvant chemotherapy regimens did not reflect in the progression patterns within the reported cases. Two patients showed progression after first-line treatment, of which one patient died not responding to tyrosine kinase inhibitor cabozantinib. As the detection of a recurrent TRIM24::MET fusion expands the spectrum of renowned driving fusion genes in IHG, this comparative illustration may indicate a distinct clinico-pathological heterogeneity of tumors bearing this driver alteration. Upfront clinical trials of IHG promoting further characterization and the implementation of individualized therapies involving receptor tyrosine kinase inhibition are required. |
| Related Links | https://actaneurocomms.biomedcentral.com/counter/pdf/10.1186/s40478-024-01817-9.pdf |
| Ending Page | 10 |
| Page Count | 10 |
| Starting Page | 1 |
| File Format | HTM / HTML |
| ISSN | 20515960 |
| DOI | 10.1186/s40478-024-01817-9 |
| Journal | Acta Neuropathologica Communications |
| Issue Number | 1 |
| Volume Number | 12 |
| Language | English |
| Publisher | BioMed Central |
| Publisher Date | 2024-06-21 |
| Access Restriction | Open |
| Subject Keyword | Neurosciences Pathology Neurology TRIM24::MET fusion Infant-type hemispheric glioma MET fusion |
| Content Type | Text |
| Resource Type | Case study |
| Subject | Pathology and Forensic Medicine Neurology (clinical) Cellular and Molecular Neuroscience |
| Journal Impact Factor | 6.2/2023 |
| 5-Year Journal Impact Factor | 6.8/2023 |
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