Development of a rapid and comprehensive genomic profiling test supporting diagnosis and research for gliomas.
Brain Tumor Pathol
; 41(2): 50-60, 2024 Apr.
Article
en En
| MEDLINE
| ID: mdl-38332448
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.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Neoplasias Encefálicas
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Metilación de ADN
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Proteínas Supresoras de Tumor
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Variaciones en el Número de Copia de ADN
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Glioma
/
Mutación
Tipo de estudio:
Diagnostic_studies
Límite:
Adult
/
Female
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Humans
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Male
/
Middle aged
Idioma:
En
Revista:
Brain Tumor Pathol
/
Brain tumor pathol
/
Brain tumor pathology
Asunto de la revista:
CEREBRO
/
NEOPLASIAS
/
PATOLOGIA
Año:
2024
Tipo del documento:
Article
País de afiliación:
Japón