Clinical impact of a cancer genomic profiling test using an in-house comprehensive targeted sequencing system.
Adolescent
Adult
Aged
Aged, 80 and over
Biomarkers, Tumor
/ genetics
Child
Child, Preschool
Class I Phosphatidylinositol 3-Kinases
/ genetics
ErbB Receptors
/ genetics
Female
Genome, Human
/ genetics
Genomics
High-Throughput Nucleotide Sequencing
Humans
Male
Middle Aged
Mutation
Neoplasms
/ epidemiology
Precision Medicine
Receptor, ErbB-2
/ genetics
Survival Analysis
Young Adult
actionable gene alteration
clinical sequencing
genomic testing
genotype-matched treatment
precision medicine
Journal
Cancer science
ISSN: 1349-7006
Titre abrégé: Cancer Sci
Pays: England
ID NLM: 101168776
Informations de publication
Date de publication:
Oct 2020
Oct 2020
Historique:
received:
16
05
2020
revised:
14
07
2020
accepted:
02
08
2020
pubmed:
11
8
2020
medline:
16
12
2020
entrez:
11
8
2020
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 32772458
doi: 10.1111/cas.14608
pmc: PMC7540994
doi:
Substances chimiques
Biomarkers, Tumor
0
Class I Phosphatidylinositol 3-Kinases
EC 2.7.1.137
PIK3CA protein, human
EC 2.7.1.137
EGFR protein, human
EC 2.7.10.1
ERBB2 protein, human
EC 2.7.10.1
ErbB Receptors
EC 2.7.10.1
Receptor, ErbB-2
EC 2.7.10.1
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
3926-3937Subventions
Organisme : Japan Agency for Medical Research and Development
ID : JP17kk0205006h000
Organisme : JSPS (Japan Society for the Promotion of Science) KAKENHI (Grant-in-Aid for Young Scientists B)
ID : 17K15910
Informations de copyright
© 2020 The Authors. Cancer Science published by John Wiley & Sons Australia, Ltd on behalf of Japanese Cancer Association.
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