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BMC Cancer
Published in: BMC Cancer 1/2024

Open Access 01-12-2024 | Glioma | Research

IDH1 mutation is detectable in plasma cell-free DNA and is associated with survival outcome in glioma patients

Authors: Stefania Crucitta, Francesco Pasqualetti, Alessandra Gonnelli, Martina Ruglioni, Giovanna Irene Luculli, Martina Cantarella, Valerio Ortenzi, Cristian Scatena, Fabiola Paiar, Antonio Giuseppe Naccarato, Romano Danesi, Marzia Del Re

Published in: BMC Cancer | Issue 1/2024

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Abstract

Background

Circulating cell-free DNA (cfDNA, liquid biopsy) is a powerful tool to detect molecular alterations. However, depending on tumor characteristics, biology and anatomic localization, cfDNA detection and analysis may be challenging. Gliomas are enclosed into an anatomic sanctuary, which obstacles the release of cfDNA into the peripheral blood. Therefore, the advantages of using liquid biopsy for brain tumors is still to be confirmed. The present study evaluates the ability of liquid biopsy to detect IDH1 mutations and its correlation with survival and clinical characteristics of glioma patients.

Methods

Blood samples obtained from glioma patients were collected after surgery prior to the adjuvant therapy. cfDNA was extracted from plasma and IDH1 p.R132H mutation analysis was performed on a digital droplet PCR. χ2-test and Cohen k were used to assess the correlation between plasma and tissue IDH1 status, while Kaplan Meier curve and Cox regression analysis were applied to survival analysis. Statistical calculations were performed by MedCalc and GraphPad Prism software.

Results

A total of 67 samples were collected. A concordance between IDH1 status in tissue and in plasma was found (p = 0.0024), and the presence of the IDH1 mutation both in tissue (138.8 months vs 24.4, p < 0.0001) and cfDNA (116.3 months vs 35.8, p = 0.016) was associated with longer median OS. A significant association between IDH1 mutation both in tissue and cfDNA, age, tumor grade and OS was demonstrated by univariate Cox regression analysis. No statistically significant association between IDH1 mutation and tumor grade was found (p = 0.10).

Conclusions

The present study demonstrates that liquid biopsy may be used in brain tumors to detect IDH1 mutation which represents an important prognostic biomarker in patients with different types of gliomas, being associated to OS.
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Metadata
Title
IDH1 mutation is detectable in plasma cell-free DNA and is associated with survival outcome in glioma patients
Authors
Stefania Crucitta
Francesco Pasqualetti
Alessandra Gonnelli
Martina Ruglioni
Giovanna Irene Luculli
Martina Cantarella
Valerio Ortenzi
Cristian Scatena
Fabiola Paiar
Antonio Giuseppe Naccarato
Romano Danesi
Marzia Del Re
Publication date
01-12-2024
Publisher
BioMed Central
Published in
BMC Cancer / Issue 1/2024
Electronic ISSN: 1471-2407
DOI
https://doi.org/10.1186/s12885-023-11726-0

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