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08.02.2024 | Original Article

Development of a rapid and comprehensive genomic profiling test supporting diagnosis and research for gliomas

verfasst von: Takuma Nakashima, Ryo Yamamoto, Makoto Ohno, Hirokazu Sugino, Masamichi Takahashi, Yusuke Funakoshi, Shohei Nambu, Atsuhito Uneda, Shunsuke Yanagisawa, Takeo Uzuka, Yoshiki Arakawa, Ryosuke Hanaya, Joji Ishida, Koji Yoshimoto, Ryuta Saito, Yoshitaka Narita, Hiromichi Suzuki

Erschienen in: Brain Tumor Pathology | Ausgabe 2/2024

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Abstract

A prompt and reliable molecular diagnosis for brain tumors has become crucial in precision medicine. While Comprehensive Genomic Profiling (CGP) has become feasible, there remains room for enhancement in brain tumor diagnosis due to the partial lack of essential genes and limitations in broad copy number analysis. In addition, the long turnaround time of commercially available CGPs poses an additional obstacle to the timely implementation of results in clinics. To address these challenges, we developed a CGP encompassing 113 genes, genome-wide copy number changes, and MGMT promoter methylation. Our CGP incorporates not only diagnostic genes but also supplementary genes valuable for research. Our CGP enables us to simultaneous identification of mutations, gene fusions, focal and broad copy number alterations, and MGMT promoter methylation status, with results delivered within a minimum of 4 days. Validation of our CGP, through comparisons with whole-genome sequencing, RNA sequencing, and pyrosequencing, has certified its accuracy and reliability. We applied our CGP for 23 consecutive cases of intracranial mass lesions, which demonstrated its efficacy in aiding diagnosis and prognostication. Our CGP offers a comprehensive and rapid molecular profiling for gliomas, which could potentially apply to clinical practices and research primarily in the field of brain tumors.

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Titel: Development of a rapid and comprehensive genomic profiling test supporting diagnosis and research for gliomas
verfasst von: Takuma Nakashima
Ryo Yamamoto
Makoto Ohno
Hirokazu Sugino
Masamichi Takahashi
Yusuke Funakoshi
Shohei Nambu
Atsuhito Uneda
Shunsuke Yanagisawa
Takeo Uzuka
Yoshiki Arakawa
Ryosuke Hanaya
Joji Ishida
Koji Yoshimoto
Ryuta Saito
Yoshitaka Narita
Hiromichi Suzuki
Publikationsdatum: 08.02.2024
Verlag: Springer Nature Singapore
Erschienen in: Brain Tumor Pathology / Ausgabe 2/2024
Print ISSN: 1433-7398
Elektronische ISSN: 1861-387X
DOI: https://doi.org/10.1007/s10014-023-00476-3

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