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Updated: Jul 27, 2025

Establishment of a Primary Culture of Patient-derived Soft Tissue Sarcoma
07:55

Establishment of a Primary Culture of Patient-derived Soft Tissue Sarcoma

Published on: April 11, 2018

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BRAF mutations and concurrent alterations in patients with soft tissue sarcoma

Hiroshi Kobayashi1, Liuzhe Zhang1, Koichi Okajima1

  • 1Department of Orthopaedic Surgery, The University of Tokyo, Tokyo, Japan.

Genes, Chromosomes & Cancer
|June 9, 2023
PubMed

Insights

BRAF alterations, including mutations and fusions, occur in 1.2% of advanced soft tissue sarcoma (STS) patients. Understanding these BRAF alterations and concurrent gene changes is crucial for developing targeted therapeutic strategies.

Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • BRAF alterations (V600E mutations, non-V600E mutations, fusions) are infrequently reported in soft tissue sarcoma (STS).
  • Limited case series highlight the need for larger studies to define the frequency and clinical relevance of BRAF alterations in STS.

Purpose of the Study:

  • To evaluate the frequency of BRAF mutations and fusions in a large cohort of advanced STS patients.
  • To investigate concurrent genetic alterations associated with BRAF alterations in STS.
  • To inform potential therapeutic strategies for BRAF-altered STS.

Main Methods:

  • Retrospective analysis of comprehensive genomic profiling data from 1964 advanced STS patients in Japan (June 2019 - March 2023).
  • Identification and quantification of BRAF V600E mutations, non-V600E mutations, and BRAF fusions.
  • Analysis of recurrent concurrent gene alterations, including CDKN2A, TERT promoter, TP53, and MAPK pathway genes (NF1, GNAQ, GNA11).

Main Results:

  • BRAF alterations were detected in 1.2% (24/1964) of advanced STS patients.
  • BRAF V600E mutations occurred in 0.6% (11/1964), non-V600E mutations in 4.6% (9/1964), and BRAF fusions in 0.2% (4/1964).
  • CDKN2A alterations were the most common concurrent alteration (45.8%), followed by TERT promoter mutations (29.2%). TP53 alterations and MAPK-activating genes were more frequent in the non-V600E group.

Conclusions:

  • BRAF alterations represent a targetable subset of advanced STS, occurring in 1.2% of patients.
  • Concurrent alterations like CDKN2A, TERT promoter, TP53, and MAPK pathway genes provide insights into the molecular landscape of BRAF-altered STS.
  • Findings support the clinical characterization and development of targeted therapies for patients with BRAF-altered advanced STS.
Keywords:
BRAF V600EBRAF alterationsBRAF fusionsTERTsoft tissue sarcoma

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