Acquired ATRX Loss and ALT Phenotype Through Tumor Recurrences in a Case of Pleomorphic Xanthoastrocytoma Suggest Their Possible Roles in Tumor Progression
| Autor: | Emilie Bernichon, Claire Boutet, Pierre Dal Col, François Vassal, Romain Rivoirard, Delphine Poncet, Fabien Forest, Michel Peoc'h |
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| Rok vydání: | 2020 |
| Předmět: |
X-linked Nuclear Protein
Astrocytoma medicine.disease_cause Pathology and Forensic Medicine Young Adult 03 medical and health sciences Cellular and Molecular Neuroscience 0302 clinical medicine Humans Medicine Young adult ATRX 030304 developmental biology Pleomorphic xanthoastrocytoma 0303 health sciences Mutation biology Brain Neoplasms business.industry Telomere Homeostasis General Medicine medicine.disease Phenotype Telomere Histone Neurology Tumor progression Disease Progression Cancer research biology.protein Female Neurology (clinical) Neoplasm Recurrence Local business 030217 neurology & neurosurgery |
| Zdroj: | Journal of Neuropathology & Experimental Neurology. 79:1011-1014 |
| ISSN: | 1554-6578 0022-3069 |
| Popis: | Pleomorphic xanthoastrocytoma (PXA) is classified as an astrocytic glioma occurring most often in children or young adults. Molecular alterations in PXA are not fully known, especially those associated with tumor progression. We describe a patient with several relapses of a PXA. The tumor showed an acquired ATRX loss through tumor evolution. We tested alternative lengthening of telomeres (ALT) with the C-circle test. While the test was negative in the first tumor, a high circle activity was detected in the last relapse, suggesting an acquired ALT phenotype. Our data not only confirm previous findings of the possible occurrence of ATRX mutations in PXA but also suggest that this alteration is linked to PXA progression. In small biopsies, tumors with ATRX loss, without IDH or histone mutation, pathologists should consider the diagnosis of PXA, especially if associated with BRAF V600E mutation, CDKN2A deletion, and ALT. |
| Databáze: | OpenAIRE |
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