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Characterize Disease-related Mutants of RAF Family Kinases by Using a Set of Practical and Feasible Methods
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Characterize Disease-related Mutants of RAF Family Kinases by Using a Set of Practical and Feasible Methods

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

Sung Hee Lim1, Jaeyun Jung1,2, Jung Young Hong1

  • 1Samsung Medical Center, Division of Hematology-Oncology, Department of Medicine, Sungkyunkwan University School of Medicine, Seoul 06351, Republic of Korea.

Biomedicines
|December 23, 2023
PubMed
Abstract

Insights

Approximately 2.0% of metastatic solid cancer patients exhibit RAF1 aberrations, including mutations, amplifications, and fusions. These aberrations were most common in bladder, ampulla of Vater, and melanoma cancers, with a significant association with microsatellite instability-high tumors.

Area of Science:

  • Oncology
  • Genetics
  • Cancer Biology

Background:

  • RAF1 aberrations are potential therapeutic targets in cancer.
  • Understanding the clinical relevance of RAF1 aberrations in solid tumors is crucial for targeted therapy development.
  • The MAPK signaling pathway is frequently dysregulated in various cancers.

Purpose of the Study:

  • To determine the incidence of RAF1 aberrations (mutations, amplifications, fusions) in metastatic solid tumors.
  • To investigate the association between RAF1 aberrations and clinical features, including tumor type and microsatellite instability.
  • To assess the utility of next-generation sequencing (NGS) for detecting RAF1 aberrations in routine clinical practice.

Main Methods:

  • Conducted a retrospective analysis of 3895 patients with metastatic solid cancers.
  • Utilized next-generation sequencing (NGS) with TruSight Oncology 500 (TSO500) assays.
  • Surveyed the incidence of RAF1 mutations (SNVs), amplifications (copy number variation), and fusions.

Main Results:

  • RAF1 aberrations were identified in 2.0% (77/3895) of patients.
  • RAF1 mutations occurred in 1.1%, amplifications in 0.6%, and fusions in 0.3%.
  • RAF1 aberrations were most frequent in bladder cancer (11.5%), ampulla of Vater cancer (5.3%), and melanoma (3.0%).
  • A significant association was found between RAF1 aberrations and microsatellite instability-high (MSI-H) tumors (6.6% vs. 2.1%, p < 0.0001).

Conclusions:

  • Approximately 2.0% of patients with metastatic solid cancers harbor RAF1 aberrations.
  • NGS is effective for detecting RAF1 aberrations in clinical tumor specimens.
  • RAF1 aberrations, particularly in conjunction with MSI-H status, may represent important therapeutic targets.
Keywords:
RAF inhibitorRAF1 aberrationamplificationfusionsingle-nucleotide variants

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