Cerebrospinal fluid tumor-derived DNA analysis aids in the diagnosis of postpartum diffuse midline glioma
Abstract
Background: Gliomas diagnosed during pregnancy or postpartum pose diagnostic and management challenges. Neurologic symptoms may be attributed to physiological changes of pregnancy or the postpartum state, possibly delaying evaluation. When lesions arise in high-risk locations, such as the brainstem, tissue biopsy is frequently infeasible, further complicating the diagnostic process.
Patient Presentation: A 28-year-old woman developed dysphagia during pregnancy, which persisted and gradually worsened after delivery. Postpartum evaluation identified a right thyroid nodule, subsequently diagnosed as papillary thyroid carcinoma following hemithyroidectomy. Eight months postpartum, the patient experienced progressive dysphagia, headaches, and dizziness. Magnetic resonance imaging revealed an expansile medullary lesion concerning for a high-grade primary brainstem tumor. Due to the brainstem location, biopsy was infeasible, and empiric chemoradiation was initiated for presumed high-grade glioma.
Molecular Findings: Cerebrospinal fluid (CSF) tumor-derived nucleic acid analysis using Summit 2.0 identified an H3-3A K28M alteration, along with co-occurring pathogenic alterations in NF1 and TP53. In conjunction with the clinical and radiographic findings, these molecular results supported classification of the tumor as diffuse midline glioma, H3 K27–altered.
Management and Outcome: Following completion of chemoradiation, dordaviprone therapy was initiated. At the most recent documented follow-up in January 2026, brain MRI demonstrated decreased size and enhancement of the medullary lesion, accompanied by improvement in dysphagia, headaches, dystonic movements, balance, and overall performance status.
Conclusions: This case demonstrates that cerebrospinal fluid-based genomic profiling can provide clinically meaningful molecular information when tissue diagnosis is contraindicated and can inform treatment planning for patients with anatomically inaccessible central nervous system tumors. It also highlights the significance of ongoing evaluation of persistent neurologic symptoms during pregnancy and the postpartum period.
Related
- Adult Thalamic Diffuse Midline Glioma, H3 K27-Altered, With KRAS Comutation and Potential Early Subependymal Dissemination
- Cooperativity through Allee Effects drives growth of diffuse midline gliomas impacting the optimal scheduling of therapeutic interventions
- Combination of ALK2 and cholesterol targeting agents exploits linked genetic and metabolic dependencies in diffuse midline glioma
- Tumor-targeted pan-RAS inhibition as a novel biologic therapy for diffuse midline glioma
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BibTeX
@article{rodriguez2026cerebrospinal,
title = {{Cerebrospinal fluid tumor-derived DNA analysis aids in the diagnosis of postpartum diffuse midline glioma}},
author = {Andrew Rodriguez and DeElegant Robinson and David Akhavan and Danielle Cunningham and Alexandra Larson and Vindhya Udhane and Kala F Schilter and Qian Nie and Honey V Reddi},
journal = {The Oncologist},
year = {2026},
month = oct,
doi = {10.1093/oncolo/oyag417},
url = {https://doi.org/10.1093/oncolo/oyag417},
note = {CC BY-NC 4.0},
}
RIS
TY - JOUR
TI - Cerebrospinal fluid tumor-derived DNA analysis aids in the diagnosis of postpartum diffuse midline glioma
AU - Andrew Rodriguez
AU - DeElegant Robinson
AU - David Akhavan
AU - Danielle Cunningham
AU - Alexandra Larson
AU - Vindhya Udhane
AU - Kala F Schilter
AU - Qian Nie
AU - Honey V Reddi
PY - 2026
DA - 2026/10/15
JO - The Oncologist
DO - 10.1093/oncolo/oyag417
UR - https://doi.org/10.1093/oncolo/oyag417
AB - Background: Gliomas diagnosed during pregnancy or postpartum pose diagnostic and management challenges. Neurologic symptoms may be attributed to physiological changes of pregnancy or the postpartum state, possibly delaying evaluation. When lesions arise in high-risk locations, such as the brainstem, tissue biopsy is frequently infeasible, further complicating the diagnostic process. Patient Presentation: A 28-year-old woman developed dysphagia during pregnancy, which persisted and gradually worsened after delivery. Postpartum evaluation identified a right thyroid nodule, subsequently diagnosed as papillary thyroid carcinoma following hemithyroidectomy. Eight months postpartum, the patient experienced progressive dysphagia, headaches, and dizziness. Magnetic resonance imaging revealed an expansile medullary lesion concerning for a high-grade primary brainstem tumor. Due to the brainstem location, biopsy was infeasible, and empiric chemoradiation was initiated for presumed high-grade glioma. Molecular Findings: Cerebrospinal fluid (CSF) tumor-derived nucleic acid analysis using Summit 2.0 identified an H3-3A K28M alteration, along with co-occurring pathogenic alterations in NF1 and TP53. In conjunction with the clinical and radiographic findings, these molecular results supported classification of the tumor as diffuse midline glioma, H3 K27–altered. Management and Outcome: Following completion of chemoradiation, dordaviprone therapy was initiated. At the most recent documented follow-up in January 2026, brain MRI demonstrated decreased size and enhancement of the medullary lesion, accompanied by improvement in dysphagia, headaches, dystonic movements, balance, and overall performance status. Conclusions: This case demonstrates that cerebrospinal fluid-based genomic profiling can provide clinically meaningful molecular information when tissue diagnosis is contraindicated and can inform treatment planning for patients with anatomically inaccessible central nervous system tumors. It also highlights the significance of ongoing evaluation of persistent neurologic symptoms during pregnancy and the postpartum period.
SN - 1083-7159
SN - 1549-490X
ER -