Work

Rapid intraoperative amplicon sequencing of CNS tumor markers

Year: 2024

Type: article

Abstract: Currently, central nervous system tumors are diagnosed with an integrated diagnostic approach that combines histopathological examination with molecular genetic profiling, which requires days to weeks to achieve a precise and informative classification of CNS tumors. This study demonstrated the feasibility of rapid multiplexed amplicon nanopore sequencing for identifying critical mutations relevant to molecular stratification of brain tumors within the timeframe of standard resection surgery. Utilizing live analysis of nanopore sequencing data, we evaluated the brain tumor-associated molecular markers IDH1 R132, IDH2 R172, pTERT C228 and C250, H3F3A K27 and G34, Hist1H3B K27, and BRAF V600. Our method achieved a turnaround time of 105minutes at the point-of-care from receipt of a tumor biopsy to result with the potential to impact surgical strategy. Our approach can be integrated with recently developed DNA methylation-based diagnostic classification systems, corroborating diagnoses and even further specifying tumor grades, thus enabling a multimodal diagnostic intraoperative assessment of CNS malignancies.

Source: Computational and Structural Biotechnology Journal

DOI: 10.1016/j.csbj.2024.11.007

Authors: Maximilian Evers, Björn Brändl, Christian Rohrandt, Carolin Kubelt-Kwamin, Franz-Josef Müller, Dominik Danso, André Maicher, Gaojianyong Wang, Sönke Friedrichsen, Stephan Kolkenbrock

Institutions: University of Münster, Christian-Albrechts-Universität zu Kiel, University Hospital Schleswig-Holstein, Max Planck Institute for Molecular Genetics

Language: English

Topic: Glioma Diagnosis and Treatment

Subfield: Genetics

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,230

Funders: Deutsche Forschungsgemeinschaft, Bundesministerium für Bildung und Forschung

Awards: G3129451782, EXC 2167: Präzisionsmedizin für Chronische Entzündungserkrankungen (PMI), G4119129891, KMU-innovativ - Verbundprojekt: Intraoperative epi-genomische Diagnostik von Hirntumoren mittels Nanoporesequenzierung (IntraEpiGliom) - Teilvorhaben: Nanoporesequenzierung sowie Erforschung von Algorithmen zur online Analyse und Klassifikation von kombinierten genetischen/epigenetischen Signalen, KMU-innovativ - Verbundprojekt: Intraoperative epi-genomische Diagnostik von Hirntumoren mittels Nanoporesequenzierung (IntraEpiGliom) - Teilvorhaben: Technologietransfer, Stabilisierung, Validierung, Dokumentation und End-to-End Verknüpfung des Nanopore Sequenzierungprozesses, KMU-innovativ - Verbundprojekt: Intraoperative epi-genomische Diagnostik von Hirntumoren mittels Nanoporesequenzierung (IntraEpiGliom) - Teilvorhaben: Aufbau von Rechenarchitekturen zur Onlineverarbeitung von Nanopore-Sequenzierungssignalen

OpenAlex ID: W4404185982

FWCI: 1.155

Cites: 24

Cited by: 5

Related to: 10