Analysis of cerebrospinal fluid tumor-derived DNA to obviate biopsy of IDH-mutant brainstem glioma in an adult
Adult brainstem gliomas are rare and present unique diagnostic and therapeutic challenges due to their critical location and limited biopsy feasibility. Molecular profiling of tumor-derived DNA (t-DNA) isolated from cerebrospinal fluid (CSF) is emerging as a minimally invasive alternative for charac...
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| Format: | Article |
| Language: | English |
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Elsevier
2025-09-01
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| Series: | The Journal of Liquid Biopsy |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2950195425000347 |
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| author | Michael Youssef Alexandra Larson Vindhya Udhane Kala F. Schilter Qian Nie Honey V. Reddi |
| author_facet | Michael Youssef Alexandra Larson Vindhya Udhane Kala F. Schilter Qian Nie Honey V. Reddi |
| author_sort | Michael Youssef |
| collection | DOAJ |
| description | Adult brainstem gliomas are rare and present unique diagnostic and therapeutic challenges due to their critical location and limited biopsy feasibility. Molecular profiling of tumor-derived DNA (t-DNA) isolated from cerebrospinal fluid (CSF) is emerging as a minimally invasive alternative for characterizing these tumors and guiding targeted therapy. A 34-year-old woman with brainstem glioma was treated with a standard course of radiation and temozolomide (TMZ) and remained stable for several years. After surveillance imaging revealed disease progression and raised suspicion of IDH-mutant disease on MRI spectroscopy, molecular profiling of CSF was ordered. The Belay Summit test, a novel NGS-based liquid biopsy assay for central nervous system (CNS) tumors, identified variants in IDH1 and TP53 as well as loss of CDKN2A/CDKN2B. Based on these findings, the patient received a short course of radiation and was started on the IDH inhibitor vorasidenib. This case demonstrates the use of t-DNA from CSF for molecular profiling of adult brainstem glioma to identify actionable genomic alterations without surgical risk and allow patients to receive targeted therapy without tissue diagnosis. |
| format | Article |
| id | doaj-art-1c4fb37229bb453b9c6d71e5581d45df |
| institution | Kabale University |
| issn | 2950-1954 |
| language | English |
| publishDate | 2025-09-01 |
| publisher | Elsevier |
| record_format | Article |
| series | The Journal of Liquid Biopsy |
| spelling | doaj-art-1c4fb37229bb453b9c6d71e5581d45df2025-08-20T03:58:21ZengElsevierThe Journal of Liquid Biopsy2950-19542025-09-01910031810.1016/j.jlb.2025.100318Analysis of cerebrospinal fluid tumor-derived DNA to obviate biopsy of IDH-mutant brainstem glioma in an adultMichael Youssef0Alexandra Larson1Vindhya Udhane2Kala F. Schilter3Qian Nie4Honey V. Reddi5Department of Neurology and the Department of Hematology and Oncology at UT Southwestern Medical Center, Dallas, TX 75235, USABelay Diagnostics, Chicago, IL, 60607, USABelay Diagnostics, Chicago, IL, 60607, USABelay Diagnostics, Chicago, IL, 60607, USABelay Diagnostics, Chicago, IL, 60607, USABelay Diagnostics, Chicago, IL, 60607, USA; Corresponding author. 1375 W Fulton St, Suite 530, Chicago, IL 60607, USA.Adult brainstem gliomas are rare and present unique diagnostic and therapeutic challenges due to their critical location and limited biopsy feasibility. Molecular profiling of tumor-derived DNA (t-DNA) isolated from cerebrospinal fluid (CSF) is emerging as a minimally invasive alternative for characterizing these tumors and guiding targeted therapy. A 34-year-old woman with brainstem glioma was treated with a standard course of radiation and temozolomide (TMZ) and remained stable for several years. After surveillance imaging revealed disease progression and raised suspicion of IDH-mutant disease on MRI spectroscopy, molecular profiling of CSF was ordered. The Belay Summit test, a novel NGS-based liquid biopsy assay for central nervous system (CNS) tumors, identified variants in IDH1 and TP53 as well as loss of CDKN2A/CDKN2B. Based on these findings, the patient received a short course of radiation and was started on the IDH inhibitor vorasidenib. This case demonstrates the use of t-DNA from CSF for molecular profiling of adult brainstem glioma to identify actionable genomic alterations without surgical risk and allow patients to receive targeted therapy without tissue diagnosis.http://www.sciencedirect.com/science/article/pii/S2950195425000347Brainstem gliomaIDH-MutationGenomic testingCSFLiquid biopsy |
| spellingShingle | Michael Youssef Alexandra Larson Vindhya Udhane Kala F. Schilter Qian Nie Honey V. Reddi Analysis of cerebrospinal fluid tumor-derived DNA to obviate biopsy of IDH-mutant brainstem glioma in an adult The Journal of Liquid Biopsy Brainstem glioma IDH-Mutation Genomic testing CSF Liquid biopsy |
| title | Analysis of cerebrospinal fluid tumor-derived DNA to obviate biopsy of IDH-mutant brainstem glioma in an adult |
| title_full | Analysis of cerebrospinal fluid tumor-derived DNA to obviate biopsy of IDH-mutant brainstem glioma in an adult |
| title_fullStr | Analysis of cerebrospinal fluid tumor-derived DNA to obviate biopsy of IDH-mutant brainstem glioma in an adult |
| title_full_unstemmed | Analysis of cerebrospinal fluid tumor-derived DNA to obviate biopsy of IDH-mutant brainstem glioma in an adult |
| title_short | Analysis of cerebrospinal fluid tumor-derived DNA to obviate biopsy of IDH-mutant brainstem glioma in an adult |
| title_sort | analysis of cerebrospinal fluid tumor derived dna to obviate biopsy of idh mutant brainstem glioma in an adult |
| topic | Brainstem glioma IDH-Mutation Genomic testing CSF Liquid biopsy |
| url | http://www.sciencedirect.com/science/article/pii/S2950195425000347 |
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