Preprint Article Version 1 Preserved in Portico This version is not peer-reviewed

Prevalence of RAF1 Aberrations in Metastatic Cancer Patients: A Real World Data

Sung Hee Lim
† ORCID logo ,
Jaeyun Jung
† ,
Jung Young Hong
,
Seung Tae Kim
,
Se Hoon Park
,
Joon Oh Park
,
Kyoung-Mee Kim
,
Jeeyun Lee
*
†
These authors contributed equally to this work.
Version 1 : Received: 28 September 2023 / Approved: 29 September 2023 / Online: 29 September 2023 (10:33:00 CEST)

A peer-reviewed article of this Preprint also exists.

Lim, S.H.; Jung, J.; Hong, J.Y.; Kim, S.T.; Park, S.H.; Park, J.O.; Kim, K.-M.; Lee, J. Prevalence of RAF1 Aberrations in Metastatic Cancer Patients: Real-World Data. Biomedicines 2023, 11, 3264. Lim, S.H.; Jung, J.; Hong, J.Y.; Kim, S.T.; Park, S.H.; Park, J.O.; Kim, K.-M.; Lee, J. Prevalence of RAF1 Aberrations in Metastatic Cancer Patients: Real-World Data. Biomedicines 2023, 11, 3264.

Abstract

Purpose: Therapeutic targeting of RAF1 is promising, but it requires further investigation for the relation between clinical features and RAF1 aberrations regarding the MAPK signaling pathway in various solid tumors to realize the precision medicine. Methods: Between October 2019 and June 2023, Samsung Medical Center, 3,895 patients with metastatic cancer patients received a next-generation sequencing (NGS) using TruSight Oncology 500 (TSO500) assay as a routine clinical practice. We surveyed the incidence of RAF1 aberration including mutation (single-nucleotide variant [SNV]), amplification (copy-number variation), and fusion. Results: In 3,895 metastatic cancer patients, 77 (2.0%) had RAF1 aberrations in their tumor specimen. Of 77 patients, 44 (1.1%) had RAF1 mutations (SNV), 25 (0.6%) had RAF1 amplification and 10 (0.3%) had RAF1 fusions. Among 10 patients with RAF1 fusion, concurrent RAF1 amplification and RAF1 mutation 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 cancer (2.3%). Microsatellite instability high (MSI-H) tumors were found in 5 out of 76 patients (6.6%) with RAF1 aberration, while MSI-H tumors were found only in 2.1% of patients with wild-type RAF1 cancer (p < 0.0001). Conclusion: We showed that when patients with metastatic solid cancer receive NGS test, approximately 2.0% have RAF1 aberrations in their tumor specimen.

Keywords

RAF1 aberration; amplification; fusion; single nucleotide variants; RAF inhibitor

Subject

Medicine and Pharmacology, Oncology and Oncogenics

Copyright: This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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