Custom multi‑tumor next‑generation sequencing panel for routine molecular diagnosis of solid tumors: Validation and results from three‑year clinical use.
custom panel
liquid biopsy
molecular diagnosis
next‑generation sequencing
Journal
International journal of molecular medicine
ISSN: 1791-244X
Titre abrégé: Int J Mol Med
Pays: Greece
ID NLM: 9810955
Informations de publication
Date de publication:
May 2022
May 2022
Historique:
received:
09
12
2021
accepted:
03
02
2022
entrez:
4
3
2022
pubmed:
5
3
2022
medline:
5
4
2022
Statut:
ppublish
Résumé
Molecular testing is extremely important in cancer care, starting as early as at diagnosis. In order to address the challenge of providing reliable results within the timeframe adapted to patient management and suitable to guide clinical decisions, a capture‑based next‑generation sequencing (NGS) panel focusing on ten genes known to harbor genetic variations which may be targeted by approved drugs in patients with cancer was designed and validated. Very favorable analytical performances were obtained for both solid and liquid biopsies. For solid biopsies, a low read depth (80X per nucleotide) led to the genotype detection accuracy of 100%. The read of raw data for liquid biopsies resulted in the 91.19% result concordance between paired solid and liquid samples. The present method met all the requirements for the ISO15189 certification. During our three‑year experience of routinely using this panel, almost 2,300 samples from lung and colorectal cancers, melanomas and gastrointestinal stromal tumors have been analyzed. It was found that our panel detected slightly more gain‑of‑function variants than described in the literature. Surprisingly, loss‑of‑function variants were also detected in certain of the analyzed genes. Finally, liquid biopsy data revealed statistically different mutated allele frequencies between tumor types, but also between mutated genes and variants themselves. In conclusion, the use of our capture‑based NGS panel is perfectly adapted to perform relevant molecular diagnosis in a time frame compatible with patient care.
Identifiants
pubmed: 35244186
doi: 10.3892/ijmm.2022.5113
pii: 57
pmc: PMC8920498
doi:
pii:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
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