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Diagnostics
Volume 16
Issue 6
10.3390/diagnostics16060851
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Brief Report

Variant Allelic Frequency to Track Therapy Response and Evaluate Leptomeningeal Disease in Metastatic Central Nervous System Cancers

by
Vindhya Udhane
†,
Alexandra Larson
†,
Jennifer N. Adams
,
Rakshitha Jagadish
,
Anthony Acevedo
,
Brett A. Domagala
,
Samantha A. Vo
,
Tarin Peltier
,
Daniel Sanchez
,
Viriya Keo
,
Julianna Ernst
,
Kala F. Schilter
,
Qian Nie
and
Honey V. Reddi
*
Belay Diagnostics, Suite 530, 1375 W. Fulton St, Chicago, IL 60607, USA
*
Author to whom correspondence should be addressed.
†
These authors contributed equally to this work.
Diagnostics 2026, 16(6), 851; https://doi.org/10.3390/diagnostics16060851
Submission received: 15 January 2026 / Revised: 9 March 2026 / Accepted: 11 March 2026 / Published: 13 March 2026
(This article belongs to the Topic Advances in Genetics and Precision Medicine in Human Diseases: 2nd Edition)
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Abstract

Background: Diagnosis of leptomeningeal disease (LMD) remains a clinical challenge due to nonspecific neurological symptoms, limitations of imaging, and the low sensitivity of cerebrospinal fluid (CSF) cytology. Molecular biomarkers, such as circulating tumor DNA (ctDNA) variant allele frequencies (VAFs), offer potential for improved detection and disease monitoring. Methods: Gene-level VAFs were analyzed from 118 Summit™ positive CSF specimens and evaluated in the context of clinical diagnosis, neurological presentation, neuroimaging, and CSF cytology. Longitudinal analyses were performed on serial CSF samples to assess VAF dynamics following therapy. Results: Longitudinal assessment demonstrated that decreases in VAF post-treatment aligned with clinical stabilization, whereas rising or persistent VAFs reflected disease progression, therapeutic resistance, or evolving clonal mutations. Elevated VAFs correlated strongly with clinically confirmed LMD and were concordant with radiographic and clinical indicators of disease. Conclusions: VAF analysis in CSF provides a quantitative biomarker for the detection and monitoring of metastatic CNS disease. These findings support its utility as a complementary tool to conventional diagnostics, offering real-time insights into disease burden, therapeutic response, and clonal evolution in LMD.
Keywords: leptomeningeal disease; variant allele frequency; longitudinal analysis; CSF liquid biopsy; Summit™ leptomeningeal disease; variant allele frequency; longitudinal analysis; CSF liquid biopsy; Summit™

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MDPI and ACS Style

Udhane, V.; Larson, A.; Adams, J.N.; Jagadish, R.; Acevedo, A.; Domagala, B.A.; Vo, S.A.; Peltier, T.; Sanchez, D.; Keo, V.; et al. Variant Allelic Frequency to Track Therapy Response and Evaluate Leptomeningeal Disease in Metastatic Central Nervous System Cancers. Diagnostics 2026, 16, 851. https://doi.org/10.3390/diagnostics16060851

AMA Style

Udhane V, Larson A, Adams JN, Jagadish R, Acevedo A, Domagala BA, Vo SA, Peltier T, Sanchez D, Keo V, et al. Variant Allelic Frequency to Track Therapy Response and Evaluate Leptomeningeal Disease in Metastatic Central Nervous System Cancers. Diagnostics. 2026; 16(6):851. https://doi.org/10.3390/diagnostics16060851

Chicago/Turabian Style

Udhane, Vindhya, Alexandra Larson, Jennifer N. Adams, Rakshitha Jagadish, Anthony Acevedo, Brett A. Domagala, Samantha A. Vo, Tarin Peltier, Daniel Sanchez, Viriya Keo, and et al. 2026. "Variant Allelic Frequency to Track Therapy Response and Evaluate Leptomeningeal Disease in Metastatic Central Nervous System Cancers" Diagnostics 16, no. 6: 851. https://doi.org/10.3390/diagnostics16060851

APA Style

Udhane, V., Larson, A., Adams, J. N., Jagadish, R., Acevedo, A., Domagala, B. A., Vo, S. A., Peltier, T., Sanchez, D., Keo, V., Ernst, J., Schilter, K. F., Nie, Q., & Reddi, H. V. (2026). Variant Allelic Frequency to Track Therapy Response and Evaluate Leptomeningeal Disease in Metastatic Central Nervous System Cancers. Diagnostics, 16(6), 851. https://doi.org/10.3390/diagnostics16060851

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