Remarkable response to radiation in a non-enhancing diffuse pediatric-type high-grade glioma with germline ATM mutation: The role of PET imaging and integrated histological and molecular analysis.
| Publication Type | Academic Article |
| Authors | Cheaney B, Wood M, Szidonya L, Ivanidze J, Nabavizadeh A, Choudhary G, Wang K, Libmann M, Walker J, Ronsley R, Crotty E, Miller M, Puri S, Dogan A, Barajas R, Vo A |
| Journal | Neurooncol Adv |
| Volume | 8 |
| Issue | 1 |
| Pagination | vdag059 |
| Date Published | 02/28/2026 |
| ISSN | 2632-2498 |
| Abstract | We report a 19-year-old female with a non-enhancing, diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype, harboring a germline ATM alteration. She presented with headaches, diplopia, papilledema, and obstructive hydrocephalus, and had a Karnofsky Performance Status of 70. MRI revealed infiltrative signal abnormality, and amino acid [F18]Fluciclovine PET/MRI identified increased avidity in the right lateral thalamus which guided biopsy sampling. Histopathology showed a hypercellular infiltrative glioma with high mitotic activity. DNA sequencing analysis with matched germline whole-exome sequencing identified a pathogenic ATM mutation, with biallelic ATM deficiency in tumor. Genome-wide DNA methylation confirmed the diagnosis. The patient received craniospinal radiation with a boost and concurrent temozolomide. She achieved rapid and significant neurologic recovery of function with KPS increasing to 90, accompanied by radiographic improvement. This case highlights the utility of PET/MRI in biopsy planning and underscores the importance of integrated histological and molecular diagnosis for management of non-enhancing gliomas. |
| DOI | 10.1093/noajnl/vdag059 |
| PubMed ID | 41878701 |
| PubMed Central ID | PMC13007283 |