Clinical utility of a blood based assay for the detection of IDH1.R132H-mutant gliomas

Syeda Maheen Batool, Ana K. Escobedo, Tiffaney Hsia, Emil Ekanayake, Sirena K. Khanna, Austin S. Gamblin, Hui Zheng, Johan Skog, Julie J. Miller, Anat O. Stemmer-Rachamimov, Daniel P. Cahill, Leonora Balaj () and Bob S. Carter
Additional contact information
Syeda Maheen Batool: Harvard Medical School
Ana K. Escobedo: Harvard Medical School
Tiffaney Hsia: Harvard Medical School
Emil Ekanayake: Harvard Medical School
Sirena K. Khanna: Harvard Medical School
Austin S. Gamblin: Harvard Medical School
Hui Zheng: Harvard Medical School
Johan Skog: a Bio-Techne Brand
Julie J. Miller: Harvard Medical School
Anat O. Stemmer-Rachamimov: Harvard Medical School
Daniel P. Cahill: Harvard Medical School
Leonora Balaj: Harvard Medical School
Bob S. Carter: Harvard Medical School

Nature Communications, 2024, vol. 15, issue 1, 1-14

Abstract: Abstract Glioma represents the most common central nervous system neoplasm in adults. Current classification scheme utilizes molecular alterations, particularly IDH1.R132H, to stratify lesions into distinct prognostic groups. Identification of the single nucleotide variant through traditional tissue biopsy assessment poses procedural risks and does not fully reflect the heterogeneous and evolving tumor landscape. Here, we introduce a liquid biopsy assay, mt-IDH1dx. The blood-based test allows minimally invasive detection of tumor-derived extracellular vesicle RNA using only 2 ml plasma volume. We perform rigorous, blinded validation testing across the study population (n = 133), comprising of IDH1.R132H patients (n = 80), IDH1 wild-type gliomas (n = 44), and age matched healthy controls (n = 9). Results from our plasma testing demonstrate an overall sensitivity of 75.0% (95% CI: 64.1%–84.0%), specificity 88.7% (95% CI: 77.0%–95.7%), positive predictive value 90.9%, and negative predictive value 70.1% compared to the tissue gold standard. In addition to fundamental diagnostic applications, the study also highlights the utility of mt-IDH1dx platform for blood-based monitoring and surveillance, offering valuable prognostic information. Finally, the optimized workflow enables rapid and efficient completion of both tumor tissue and plasma testing in under 4 hours from the time of sampling.

Date: 2024
References: View references in EconPapers View complete reference list from CitEc
Citations:

Downloads: (external link)
https://www.nature.com/articles/s41467-024-51332-7 Abstract (text/html)

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:nat:natcom:v:15:y:2024:i:1:d:10.1038_s41467-024-51332-7

Ordering information: This journal article can be ordered from
https://www.nature.com/ncomms/

DOI: 10.1038/s41467-024-51332-7

Access Statistics for this article

Nature Communications is currently edited by Nathalie Le Bot, Enda Bergin and Fiona Gillespie

More articles in Nature Communications from Nature
Bibliographic data for series maintained by Sonal Shukla () and Springer Nature Abstracting and Indexing ().