IJMS, Vol. 26, Pages 9639: Ultra-Fast Intraoperative IDH-Mutation Analysis Enables Rapid Stratification and Therapy Planning in Diffuse Gliomas

International Journal of Molecular Sciences doi: 10.3390/ijms26199639

Authors:
Theo F. J. Kraus
Beate Alinger-Scharinger
Celina K. Langwieder
Anna Mol
Tereza Aleksic
Brain van Merkestijn
Hans U. Schlicker
Mathias Spendel
Johannes Pöppe
Christoph Schwartz
Christoph J. Griessenauer
Karl Sotlar

Diffuse gliomas are the most common primary brain tumors in adults in the Western world. According to the 2021 World Health Organization (WHO) classification of central nervous system (CNS) tumors, the assessment of isocitrate dehydrogenase (IDH1/2)-mutation status is essential for accurate patient stratification. In this study, we performed a comprehensive evaluation of IDH-mutation status in the intraoperative setting using the Idylla platform. The reference cohort comprised 30 formalin-fixed paraffin-embedded (FFPE) tissue samples with known IDH status, while the exploration cohort included 35 intraoperative snap-frozen and native-tissue specimens. The results were compared with those of a standard next-generation sequencing (NGS) analysis. Our findings demonstrate that the Idylla IDH-mutation assay provides 100% concordance compared with NGS analysis for both FFPE and intraoperative tissue samples. The Idylla system delivers results within approximately 90 min, significantly outperforming NGS, which requires between 7 and 27 days. This rapid turnaround facilitates timely interdisciplinary case discussions and enables timely therapy planning, within the framework of neuro-oncological molecular tumor boards. The ultra-fast intraoperative IDH-mutation analysis using the Idylla platform, in combination with intraoperative histopathological assessment, enables rapid patient stratification and treatment planning in diffuse gliomas.

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Theo F. J. Kraus www.mdpi.com