Home > Development of Molecular-Based Diagnostic Approaches for Brain Tumors
Development of Molecular-Based Diagnostic Approaches for Brain Tumors
Brain tumors are classified into more than 130 distinct diseases. Accurate diagnosis now requires molecular analyses. With ongoing discoveries of genetic changes in brain tumors, the number of genes required for accurate diagnosis continues to increase.
To address this, our laboratory is actively developing diagnostic methods tailored to brain tumors. We aim to establish systems that can be implemented in clinical settings using these new diagnostic tools.
In addition to gene-level mutations, chromosomal-level structural abnormalities also play a critical role in diagnosing brain tumors. Therefore, comprehensive diagnostic approaches must include not only gene panel testing but also chromosomal analysis.
We have developed a comprehensive genomic profiling specifically designed for brain tumors. This new panel can detect genetic alterations with high accuracy and provides valuable information even in diagnostically challenging cases (T. Nakashima, Brain Tumor Pathol., 2024). We continuously improve this method and accumulate clinical cases to accelerate its implementation in routine diagnostics.
Nanopore sequencing also supports full-length RNA sequencing, making it possible to identify differences in RNA isoforms in addition to quantifying gene expression. Furthermore, its ability to detect nucleotide modifications allows us to investigate epigenetic alterations such as DNA methylation and RNA modifications, which are key regulators of gene expression.
By leveraging these cutting-edge technologies, we aim to develop novel diagnostic and classification methods based on both genomic and epigenomic abnormalities in brain tumors. We are also actively searching for new therapeutic targets, contributing to the advancement of treatment strategies for these challenging diseases.
To address this, our laboratory is actively developing diagnostic methods tailored to brain tumors. We aim to establish systems that can be implemented in clinical settings using these new diagnostic tools.
Development of a Comprehensive Genetic Profiling specialized for Brain Tumor Diagnosis
In Japan, comprehensive genomic profiling has become a widely adopted tool for cancer diagnosis. This method enables the simultaneous detection of multiple genetic alterations. However, existing panels may lack critical genes required to diagnose specific brain tumor types, highlighting the need for further refinement.In addition to gene-level mutations, chromosomal-level structural abnormalities also play a critical role in diagnosing brain tumors. Therefore, comprehensive diagnostic approaches must include not only gene panel testing but also chromosomal analysis.
We have developed a comprehensive genomic profiling specifically designed for brain tumors. This new panel can detect genetic alterations with high accuracy and provides valuable information even in diagnostically challenging cases (T. Nakashima, Brain Tumor Pathol., 2024). We continuously improve this method and accumulate clinical cases to accelerate its implementation in routine diagnostics.
Development of Diagnostic Methods Using Long-Read Sequencing
Our laboratory was among the first to introduce the PromethION 2 Integrated (P2i), the latest long-read sequencing technology from Oxford Nanopore Technologies, for brain tumor analysis in Japan. This innovative platform allows us to obtain exceptionally long sequencing reads, enabling the precise detection of complex structural variations and repeat-rich regions that were previously difficult to analyze using short-read technologies.Nanopore sequencing also supports full-length RNA sequencing, making it possible to identify differences in RNA isoforms in addition to quantifying gene expression. Furthermore, its ability to detect nucleotide modifications allows us to investigate epigenetic alterations such as DNA methylation and RNA modifications, which are key regulators of gene expression.
By leveraging these cutting-edge technologies, we aim to develop novel diagnostic and classification methods based on both genomic and epigenomic abnormalities in brain tumors. We are also actively searching for new therapeutic targets, contributing to the advancement of treatment strategies for these challenging diseases.
