Highlights
- •Gene fusions do not excess 1% of patients with colorectal cancer (CRC).
- •Gene fusions are overrepresented in patients with MSI/RAS-BRAFWT CRC.
- •Most of gene fusions provide access to new therapeutic opportunities.
- •Our results support the use of a two-step algorithm for molecular screening.
Abstract
Gene fusions provide access to new therapeutic opportunities for patients treated
for a colorectal cancer (CRC). However, they do not excess 1% of patients. A better
identification of patients in whom gene fusions are highly prevalent is a major issue
in a therapeutic and medico-economics perspective. This study assesses the rates of
gene fusions in CRC patients with MSI/RAS-BRAFWT in our routine practice detected with a commercially available NGS-based fusion panel.
Among the 130 MSI CRC tumors, 43 (33%) were KRAS-NRAS-BRAFWT. A gene fusion was detected in 7 (25.9%) of the 27 MSI/RAS-BRAFWT samples, which had RNA suitable for analysis after quality control. These fusions
involved mainly NTRK1/3 (n = 5), as well as ALK (n = 1) and BRAF (n = 1). In the present study, we confirm that patients with MSI/RAS-BRAFWT CRCs represent a subpopulation in which targetable gene fusions are overrepresented.
Our results support the use of a two-step algorithm for molecular screening, in which
metastatic CRC patients would have routine MSI and RAS/BRAF testing, and then only
those with MSI/RAS-BRAFWT would be screened with dedicated NGS RNA panel for gene
fusions.
Keywords
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Article info
Publication history
Published online: May 19, 2022
Accepted:
April 16,
2022
Received in revised form:
April 11,
2022
Received:
February 19,
2022
Identification
Copyright
© 2022 Elsevier Ltd. All rights reserved.
