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Review
. 2025 Apr 11:18:714-725.
doi: 10.1016/j.ibneur.2025.04.007. eCollection 2025 Jun.

The emerging role of circulating tumor DNA in brain tumor research

Amir Modarresi Chahardehi  1   2 , Niki Faraji  3 , Nikoo Emtiazi  4 , Reza Nasiri  5 , Maryam Daghagheleh  6 , Helia Mohammadaein  7 , Fatemeh Masoudi  8 , Kimia Ghazi Vakili  9 , Aylin Sefidmouy Azar  10 , Hossein Fatemian  5 , Hossein Motedayyen  11 , Reza Arefnezhad  12 , Fatemeh Rezaei-Tazangi  2 , Zahra Niknam  13 , Marziye Ranjbar Tavakoli  14
Affiliations
Review

The emerging role of circulating tumor DNA in brain tumor research

Amir Modarresi Chahardehi et al. IBRO Neurosci Rep. .

Abstract

Brain tumors provide considerable diagnostic and treatment challenges due to their intricate nature and the hazards linked to direct tissue biopsies. Owing to the restricted sensitivity and specificity of conventional procedures, new techniques like liquid biopsy have garnered attention. Circulating tumor DNA (ctDNA), present in physiological fluids such as cerebrospinal fluid (CSF) and plasma, has emerged as a viable instrument for non-invasive tumor characterization. Hence, advancements in next-generation sequencing (NGS) and digital PCR have enhanced the sensitivity of ctDNA detection, rendering it a feasible method for monitoring tumor dynamics and evaluating therapy responses. Research indicates that ctDNA strongly correlates with tumor heterogeneity, providing a superior alternative to single-site tissue biopsies. CSF, due to its proximity to the brain, offers elevated amounts of ctDNA for examination relative to plasma, particularly in central nervous system (CNS) cancers. Research indicates that ctDNA can detect actionable mutations, forecast little residual illness, and enable real-time monitoring of disease development and resistance. Notwithstanding these advantages, difficulties, including poor ctDNA yield and heterogeneity in detection methodologies persist. This review examines the clinical efficacy of ctDNA in brain tumor diagnosis, emphasizes technical developments in ctDNA analysis, and stresses the necessity for standardized methods. Comprehending the capabilities and constraints of ctDNA can facilitate the development of more accurate, individualized therapy approaches in neuro-oncology.

Keywords: Brain tumor; Cell free DNA; Circulating tumor DNA; Glioblastoma; Glioma.

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Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
Number of articles mentioning ctDNA from 2000 to November 2025 according to the Web of Science™ database.
Fig. 2
Fig. 2
Techniques related to detection and analysis of ctDNA in brain tumors (License number: HI27WHPDNU).
Fig. 3
Fig. 3
A schematic presentation regarding the clinical uses of ctDNA in cancer management (License number: LP27W6GRYZ).
Fig. 4
Fig. 4
Urine, plasma, and CSF are some common sources for sampling ctDNA (License number: SA27W6RN96).
Fig. 5
Fig. 5
The potential of ctDNA in the detection of brain tumors as well as some cancers (License number: BF27W7XRQC).
See this image and copyright information in PMC

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