Clinical impact of a cancer genomic profiling test using an in-house comprehensive targeted sequencing system

Autor: Hideyuki Hayashi, Ryosuke Matsuoka, Shigeki Tanishima, Emmy Yanagita, Toraji Amano, Ryo Mori, Takahiro Yamada, Ichiro Yabe, Yuka Shibata, Hiroshi Nishihara, Hirotoshi Dosaka-Akita, Ichiro Kinoshita, Kyoko Fujii, Yoshito Komatsu, Chihiro Okada
Rok vydání: 2020
Předmět:
0301 basic medicine
Oncology
Male
Cancer Research
Receptor
ErbB-2
clinical sequencing
medicine.disease_cause
genomic testing
0302 clinical medicine
Neoplasms
Child
Genetics
Genomics
and Proteomics
genotype‐matched treatment
Exome sequencing
Aged
80 and over
Mutation
medicine.diagnostic_test
High-Throughput Nucleotide Sequencing
General Medicine
Genomics
Amplicon
Middle Aged
ErbB Receptors
030220 oncology & carcinogenesis
Child
Preschool
Female
Original Article
Adult
medicine.medical_specialty
Adolescent
Class I Phosphatidylinositol 3-Kinases
precision medicine
Physical examination
actionable gene alteration
03 medical and health sciences
Young Adult
Internal medicine
medicine
Biomarkers
Tumor
Humans
Aged
business.industry
Genome
Human
Cancer
Precision medicine
medicine.disease
Survival Analysis
genomic DNA
030104 developmental biology
Personalized medicine
business
Zdroj: Cancer Science
ISSN: 1349-7006
Popis: Precision medicine is a promising strategy for cancer treatment. In this study, we developed an in‐house clinical sequencing system to perform a comprehensive cancer genomic profiling test as a clinical examination and analyzed the utility of this system. Genomic DNA was extracted from tumor tissues and peripheral blood cells collected from 161 patients with different stages and types of cancer. A comprehensive targeted amplicon exome sequencing for 160 cancer‐related genes was performed using next‐generation sequencing (NGS). The sequencing data were analyzed using an original bioinformatics pipeline, and multiple cancer‐specific gene alterations were identified. The success rate of our test was 99% (160/161), while re‐biopsy was required for 24% (39/161) of the cases. Potentially actionable and actionable gene alterations were detected in 91% (145/160) and 46% (73/160) of the patients, respectively. The actionable gene alterations were frequently detected in PIK3CA (9%), ERBB2 (8%), and EGFR (4%). High tumor mutation burden (TMB) (≥10 mut/Mb) was observed in 12% (19/160) of the patients. The secondary findings in germline variants considered to be associated with hereditary tumors were detected in 9% (15/160) of the patients. Seventeen patients (11%, 17/160) were treated with genotype‐matched therapeutic agents, and the response rate was 47% (8/17). The median turnaround time for physicians was 20 days, and the median survival time after the initial visit was 8.7 months. The results of the present study prove the feasibility of implementing in‐house clinical sequencing as a promising laboratory examination technique for precision cancer medicine.
In‐house clinical sequencing system is a promising laboratory examination for precision cancer medicine.
Databáze: OpenAIRE
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