Diffusely metastatic glioblastoma with FGFR3::TACC3 fusion: cell-free DNA fragmentation analyses and molecular characterization of matched primary and metastatic tumor sites

Extracranial metastasis of IDH-wildtype glioblastoma is very rare and poorly understood at the molecular level. We report a case of FGFR3::TACC3 fusion IDH-wildtype glioblastoma in a 61-year-old male, whose preoperative blood sample showed highly aberrant cfDNA fragmentation patterns, which could be suggestive of early systemic dissemination, undetected by standard-of-care imaging of his body. Eleven months post-resection and adjuvant therapy, he developed widespread extracranial metastases. Comprehensive molecular profiling of matched primary and metastatic tumors revealed broadly conserved genomic, transcriptomic, and copy number landscapes, with the metastasis harboring an additional ERCC6 deletion and enriched expression of receptor tyrosine kinase signaling genes. These findings provide rare insight into the genetic continuity and evolution underlying IDH-wildtype glioblastoma metastasis.

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Publication Details

Journal
Acta Neuropathologica Communications
Published
2025-11-03
DOI
https://doi.org/10.1186/s40478-025-02142-5
Primary Topic
Glioma Diagnosis and Treatment
Type
article
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article

Diffusely metastatic glioblastoma with FGFR3::TACC3 fusion: cell-free DNA fragmentation analyses and molecular characterization of matched primary and metastatic tumor sites

Sonika M Dahiya, Omar H. Butt, Suzanne Crumley, Ashwin Singh Parihar et al.
Acta Neuropathologica Communications
Glioma Diagnosis and Treatment
article

Diffusely metastatic glioblastoma with FGFR3::TACC3 fusion: cell-free DNA fragmentation analyses and molecular characterization of matched primary and metastatic tumor sites

Sonika M Dahiya, Omar H. Butt, Suzanne Crumley, Ashwin Singh Parihar, Alicia N. Vagnozzi, Albert H. Kim, Katie D. Vo, Miguel A. Hernandez‐Rovira, Michelle Miller‐Thomas, Dimitrios Mathios, Noushin Niknafs, Milan G. Chheda, K Prabhu, Jiayi Huang, Bhargavi S. Sovani, Tyler Bales
article en

Abstract

Extracranial metastasis of IDH-wildtype glioblastoma is very rare and poorly understood at the molecular level. We report a case of FGFR3::TACC3 fusion IDH-wildtype glioblastoma in a 61-year-old male, whose preoperative blood sample showed highly aberrant cfDNA fragmentation patterns, which could be suggestive of early systemic dissemination, undetected by standard-of-care imaging of his body. Eleven months post-resection and adjuvant therapy, he developed widespread extracranial metastases. Comprehensive molecular profiling of matched primary and metastatic tumors revealed broadly conserved genomic, transcriptomic, and copy number landscapes, with the metastasis harboring an additional ERCC6 deletion and enriched expression of receptor tyrosine kinase signaling genes. These findings provide rare insight into the genetic continuity and evolution underlying IDH-wildtype glioblastoma metastasis.

Acta Neuropathologica CommunicationsVol. 13(1)
Johns Hopkins University (US), Washington University in St. Louis (US), Sidney Kimmel Comprehensive Cancer Center (US)
Openalex Percentile: Top 55%
Glioma Diagnosis and Treatment
DOIOpen Access PDFOpenAlex
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