Evidence map›Paper›PMID 41645359›Full record

ArticleActa neuropathologica communications2026

Cell-free DNA from cerebrospinal fluid cytology specimens as a novel liquid biopsy approach for pediatric patients with primary central nervous system tumors.

Nicholas Chun, Brandon Edelbach, Muhammad Baig, Laura A T Kagami, Richard A Robison, Edwina Choung, Isaac Kremsky, Kevin Leeper, Brian Ferguson, D Gigi Ostrow and 15 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Acta neuropathologica communications, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Review
  2. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

25 authors.

Nicholas Chun *Department of Pathology and Human Anatomy, Loma Linda University, 11234 Anderson Street, Room 2124, Loma Linda, CA, 92354, USA.
Brandon Edelbach *Loma Linda University, School of Medicine, Loma Linda, CA, USA.
Muhammad BaigDepartment of Pediatric Hematology Oncology, Loma Linda University, 11175 Campus Street, Loma Linda, CA, USA.
Laura A T KagamiDepartment of Pathology and Laboratory Medicine, Center for Personalized Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA.
Richard A RobisonDepartment of Neurosurgery, Loma Linda University, Loma Linda, CA, USA.
Edwina ChoungDepartment of Pathology and Human Anatomy, Loma Linda University, 11234 Anderson Street, Room 2124, Loma Linda, CA, 92354, USA.
Isaac KremskyDepartment of Basic Sciences, Loma Linda University School of Medicine, Loma Linda, CA, 92350, USA.
Kevin LeeperDepartment of Pathology and Human Anatomy, Loma Linda University, 11234 Anderson Street, Room 2124, Loma Linda, CA, 92354, USA.
Brian FergusonDepartment of Pathology and Human Anatomy, Loma Linda University, 11234 Anderson Street, Room 2124, Loma Linda, CA, 92354, USA.
D Gigi OstrowDepartment of Pathology and Laboratory Medicine, Center for Personalized Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA.
Cindy FongDepartment of Pathology and Laboratory Medicine, Center for Personalized Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA.
Udochukwu OyoyoDepartment of Radiology, Loma Linda University, Loma Linda, CA, USA.
Rajeev NowrangiDepartment of Radiology, Loma Linda University, Loma Linda, CA, USA.
Minwoo SongDepartment of Neurosurgery, Loma Linda University, Loma Linda, CA, USA.
Bin OthmanDepartment of Neurosurgery, Loma Linda University, Loma Linda, CA, USA.
Tanya MinasianDepartment of Neurosurgery, Loma Linda University, Loma Linda, CA, USA.
Diem Kieu TranDepartment of Neurosurgery, Loma Linda University, Loma Linda, CA, USA.
Sujata MushrifDepartment of Pediatric Hematology Oncology, Loma Linda University, 11175 Campus Street, Loma Linda, CA, USA.
Adina AchiriloaieDepartment of Radiology, Loma Linda University, Loma Linda, CA, USA.
Saied MirshahidiLoma Linda University Cancer Center Biospecimen Laboratory, Department of Medicine and Basic Sciences, Loma Linda University School of Medicine, Loma Linda, CA, USA.
Gary YuMailman School of Public Health, Columbia University, New York, NY, USA.
Pramil SinghCenter for Data Science, Loma Linda University, Loma Linda, CA, USA.
Ravi RaghavanDepartment of Pathology and Human Anatomy, Loma Linda University, 11234 Anderson Street, Room 2124, Loma Linda, CA, 92354, USA.
Jaclyn A Biegel *Department of Pathology and Laboratory Medicine, Center for Personalized Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA.
Yan Chen Wongworawat *Department of Pathology and Human Anatomy, Loma Linda University, 11234 Anderson Street, Room 2124, Loma Linda, CA, 92354, USA. ychenwongworawat@llu.edu.

Funding

Alex’s Lemonade Stand Foundation (ALSF) 23-27881
6 · The paper itself

Abstract

backgroundAssessing circulating cell-free DNA (cfDNA) in cerebrospinal fluid (CSF) has been proposed as a promising alternative to tissue biopsy. Advances in cfDNA sequencing have further underscored the potential of CSF liquid biopsies in the clinical setting. CSF is routinely collected for cytologic evaluation at diagnosis and at recurrence in both pediatric and adult central nervous system (CNS) tumors. Preliminary studies have shown that CSF cfDNA analysis may be more sensitive than CSF cytology for detecting the presence of tumor.

methodsCSF specimens were prospectively collected from seven pediatric patients with primary CNS malignant tumors. When possible, CSF was collected fresh and from processed cytology specimens. Low-pass whole genome sequencing (LP-WGS) and next-generation sequencing (NGS) using a custom targeted sequencing panel were performed on the specimens to identify copy number alterations (CNAs), detect mutations, and estimate circulating tumor DNA (ctDNA) fractions. Results were compared with matched tumor tissue molecular profiles and corresponding imaging findings.

resultsAbnormalities in cfDNA were detected in four patients. Sequencing of CSF cytology supernatants demonstrated the presence of circulating tumor DNA with characteristic CNAs and mutations that matched what was seen the tumor tissue as well as the fresh CSF specimens. These studies also revealed tumor heterogeneity and genomic evolution over time.

conclusionThis study demonstrates the feasibility of utilizing routinely discarded supernatants from CSF cytology specimens for LP-WGS and targeted NGS. Our approach optimizes the use of CSF that may be limited in pediatric patients as a source for liquid biopsy-based genomic studies. Future research will be necessary to optimize and validate the methodology to enable clinical implementation.

Indexed as

Cell-Free Nucleic AcidsCentral Nervous System NeoplasmsCirculating Tumor DNAAdolescentBiomarkers, TumorChildChild, PreschoolFemaleHigh-Throughput Nucleotide SequencingHumansInfantLiquid BiopsyMaleProspective StudiesWhole Genome SequencingBiomarkers, TumorCell-Free Nucleic AcidsCirculating Tumor DNACell-free DNACerebrospinal fluidCytology supernatantLiquid biopsyLow-pass whole genome sequencingTargeted next-generation sequencing

Identifiers

PMID41645359
PMCPMC12918121

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.