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Title: Pyrosequencing versus methylation-specific PCR for assessment of MGMT methylation in tumor and blood samples of glioblastoma patients
Author: Estival, Anna
Sanz, Carolina
Ramirez, Jose Luis
Velarde, Jose Maria
Domenech, Marta
Carrato, Cristina
Peñas, Ramón de las
Gil Gil, Miguel
Sepúlveda, Juan
Armengol, Roser
Cardiel, Isaac
Berrocal, Alfonso
Luque, Raquel
Herrero, Ana
Balana, Carmen
Keywords: Glioma
Marcadors bioquímics
Biochemical markers
Issue Date: 31-Jul-2019
Publisher: Nature Publishing Group
Abstract: Circulating biomarkers in blood may provide an interesting alternative to risky tissue biopsies in the diagnosis and follow-up of glioblastoma patients. We have assessed MGMT methylation status in blood and tissue samples from unresected glioblastoma patients who had been included in the randomized GENOM-009 trial. Paired blood and tissue samples were assessed by methylation-specific PCR (MSP) and pyrosequencing (PYR). After establishing the minimum PYR cut-off that could yield a significant difference in overall survival, we assessed the sensitivity, specificity, positive predictive value and negative predictive value (NPV) of the analyses. Methylation could be detected in cfDNA by both MSP and PYR but with low concordance with results in tissue. Sensitivity was low for both methods (31% and 38%, respectively), while specificity was higher for MSP in blood than for PYR in plasma (96% vs 76%) and NPV was similar (56 vs 57%). Concordance of results in tissue by MSP and PYR was 84.3% (P < 0.001) and correlated with outcome. We conclude that detection of cfDNA in the blood of glioblastoma patients can be an alternative when tumor tissue is not available but methods for the detection of cfDNA in blood must improve before it can replace analysis in tumor tissue.
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It is part of: Scientific Reports, 2019, vol. 9
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Appears in Collections:Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

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