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Rapid intra-surgical real-time glioma characterisation using a defined marker panel


Divergent to classical histology diagnostics of brain tumors, we developed an amplification-based workflow (4) to investigate molecular tumor markers during surgery. We designed (2) amplification systems for defined marker regions containing known mutations (IDH1, IDH2, pTERT, H3F3A, Hist1H3B, BRAF). Those amplicons were used for library preparation using either Ligation or Rapid Sequencing Kits. Resulting sequences were mapped and variants called in real time using custom scripts (3). As proof of concept, a clinical demonstrator (5) was performed alongside a tumor resection surgery (4 markers: IDH1, IDH2, pTERT, H3F3A). The resulting intra-surgical classification of the tumor was confirmed by classical histological methods after surgery.

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