Clinical utility of plasma cell-free DNA (cfDNA) in diffuse gliomas for the detection of IDH1 R132H mutation.

Autor: Singh S; Neuropathology Laboratory, All India Institute of Medical Sciences, New Delhi, India., Bhardwaj S; Neuropathology Laboratory, All India Institute of Medical Sciences, New Delhi, India., Dandapath I; Neuropathology Laboratory, All India Institute of Medical Sciences, New Delhi, India., Singh J; Neuropathology Laboratory, All India Institute of Medical Sciences, New Delhi, India., Das S; Neuropathology Laboratory, All India Institute of Medical Sciences, New Delhi, India., Mohan T; Neuropathology Laboratory, All India Institute of Medical Sciences, New Delhi, India., Bora SK; Department of Neurosurgery, All India Institute of Medical Sciences, New Delhi, India., Kedia S; Department of Neurosurgery, All India Institute of Medical Sciences, New Delhi, India., Suri A; Department of Neurosurgery, All India Institute of Medical Sciences, New Delhi, India., Sharma MC; Neuropathology Laboratory, All India Institute of Medical Sciences, New Delhi, India., Sarkar C; Department of Pathology, All India Institute of Medical Sciences, New Delhi, India., Faruq M; CSIR Institute of Genomics and Integrative Biology, Delhi, India., Suri V; Neuropathology Laboratory, All India Institute of Medical Sciences, New Delhi, India. Electronic address: surivaishali@yahoo.co.in.
Jazyk: angličtina
Zdroj: Pathology, research and practice [Pathol Res Pract] 2024 Nov; Vol. 263, pp. 155571. Date of Electronic Publication: 2024 Sep 14.
DOI: 10.1016/j.prp.2024.155571
Abstrakt: Liquid biopsy for CNS tumors is in its nascent phase, hindered by the low levels of circulating tumor DNA (ctDNA). Overcoming this challenge requires highly sensitive molecular techniques. DD-PCR emerges as a standout technique due to its ability to identify rare mutations, copy number variations, and circulating nucleic acids, making it one of the best methods for identifying somatic mutations in cell-free DNA (cfDNA). Despite promising results from various studies demonstrating the feasibility of obtaining informative ctDNA profiles from liquid biopsy samples, challenges persist, including the need to standardize sample collection, storage, and processing methods, define clear assay positivity thresholds, and address the overall low assay sensitivity. Our two-phase study began by assessing DD-PCR efficacy in FFPE tissues, revealing robust concordance with immunohistochemistry. In Phase 1 (85 cases), DD-PCR on FFPE tissues demonstrated 100 % sensitivity and specificity for IDH1 R132H mutations. In Phase 2 (100 cases), analysis extended to cfDNA, maintaining high specificity (100 %) with moderate sensitivity (44.2 %). Overall concordance with immunohistochemistry was 61 %, highlighting liquid biopsy's potential in glioma management. The findings emphasized DD-PCR's clinical utility in both tissue and liquid biopsy, underscoring its role in early detection, diagnosis, and therapeutic monitoring of diffuse gliomas.
Competing Interests: Declaration of Competing Interest The authors declare no conflict of interest.
(Copyright © 2024. Published by Elsevier GmbH.)
Databáze: MEDLINE
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