Targeted RNA-sequencing analysis for fusion transcripts detection in tumor diagnostics: assessment of bioinformatic tools reliability in FFPE samples.
Next-generation sequencing (NGS)
RNA-sequencing
fluorescence in situ hybridization (FISH)
formalin-fixed paraffin-embedded (FFPE)
gene fusions
Journal
Exploration of targeted anti-tumor therapy
ISSN: 2692-3114
Titre abrégé: Explor Target Antitumor Ther
Pays: United States
ID NLM: 101770662
Informations de publication
Date de publication:
2022
2022
Historique:
received:
29
04
2022
accepted:
02
08
2022
entrez:
7
11
2022
pubmed:
8
11
2022
medline:
8
11
2022
Statut:
ppublish
Résumé
Diagnostic laboratories are progressively introducing next-generation sequencing (NGS) technologies in the routine workflow to meet the increasing clinical need for comprehensive molecular characterization in cancer patients for diagnosis and precision medicine, including fusion-transcripts detection. Nevertheless, the low quality of messenger RNA (mRNA) extracted from formalin-fixed paraffin-embedded (FFPE) samples may affect the transition from traditional single-gene testing approaches [like fluorescence Herein, NGS data from 190 soft tissue tumors (STTs) and carcinoma cases, discussed in the context of the institutional Molecular Tumor Board, are reported and analyzed by FusionPlex The combination of FusionPlex Albeit ARR and SFU showed lower sensitivity, the use of additional fusion-detection tools can contribute to reinforcing or extending the output obtained by ADx, particularly in the case of low-quality input data. Overall, our results sustain the clinical use of NGS for the detection of fusion transcripts in FFPE material.
Identifiants
pubmed: 36338518
doi: 10.37349/etat.2022.00102
pii: etat-03-1002102
pmc: PMC9630092
doi:
Types de publication
Journal Article
Langues
eng
Pagination
582-597Informations de copyright
© The Author(s) 2022.
Déclaration de conflit d'intérêts
The authors declare that they have no conflicts of interest.
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