AI Article Synopsis
- * Out of 3,895 patients tested, 77 (2.0%) showed RAF1 aberrations, with the majority being single-nucleotide mutations, followed by amplifications and fusions, with bladder cancer being the most common tumor type.
- * The research highlights that patients with RAF1 aberrations had a higher occurrence of microsatellite instability high (MSI-H) tumors compared to those with wild-type cancers, suggesting a potential link between RAF1 alterations and specific tumor characteristics.
Article Abstract
Purpose: Therapeutic targeting of RAF1 is a promising cancer treatment, but the relationship between clinical features and RAF1 aberrations in terms of the MAPK signaling pathway is poorly understood in various solid tumors.
Methods: Between October 2019 and June 2023 at Samsung Medical Center, 3895 patients with metastatic solid cancers underwent next-generation sequencing (NGS) using TruSight Oncology 500 (TSO500) assays as routine clinical practice. We surveyed the incidence of RAF1 aberrations including mutations (single-nucleotide variants [SNVs]), amplifications (copy number variation), and fusions.
Results: Among the 3895 metastatic cancer patients, 77 (2.0%) exhibited aberrations. Of these 77 patients, 44 (1.1%) had mutations (SNV), 25 (0.6%) had amplifications, and 10 (0.3%) had fusions. Among the 10 patients with fusions, concurrent amplifications and mutations were detected in one patient each. The most common tumor types were bladder cancer (11.5%), followed by ampulla of Vater (AoV) cancer (5.3%), melanoma (3.0%), gallbladder (GB) cancer (2.6%), and gastric (2.3%) cancer. Microsatellite instability high (MSI-H) tumors were observed in five of 76 patients (6.6%) with aberrations, while MSI-H tumors were found in only 2.1% of patients with wild-type cancers ( < 0.0001).
Conclusion: We demonstrated that approximately 2.0% of patients with metastatic solid cancers have aberrations according to NGS of tumor specimens.
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|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10740931 | PMC |
| http://dx.doi.org/10.3390/biomedicines11123264 | DOI Listing |
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