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Updated: Mar 20, 2026
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
Oncogene mutation profiling reveals poor prognosis associated with FGFR1/3 mutation in liposarcoma
Chengfang Li1, Yaoyuan Shen2, Yan Ren2
1Department of Pathology, Shihezi University School of Medicine, Shihezi, Xinjiang 832002, China; Department of Pathology, The Affiliated Hospital of Zun Yi Medical College, Zunyi, Guizhou 563000, China.
Liposarcoma (LPS) gene mutations, including FGFR1/3, are linked to poor survival. Investigating these mutations may reveal new therapeutic targets for soft tissue sarcomas.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Liposarcoma (LPS) is a common soft tissue sarcoma with poor response to conventional treatments.
- Recurrence and metastasis are primary causes of mortality in LPS patients.
Purpose of the Study:
- To identify novel gene mutations and pathways in primary and recurrent LPS.
- To explore potential therapeutic targets for liposarcoma.
Main Methods:
- High-throughput analysis of 238 mutations in 19 oncogenes using Sequenom MassARRAY.
- Nucleic acid extraction from 19 primary and recurrent LPS samples (9 DDLPS, 9 myxoid/round cell LPS, 1 pleomorphic LPS).
Main Results:
- Missense mutations were found in 21.1% of LPS specimens across FGFR1, FGFR3, PIK3CA, and KIT genes.
- FGFR1/3 mutations were associated with reduced overall survival in patients.
- PIK3CA mutations occurred in 11.1% of myxoid cell LPS.
Conclusions:
- FGFR1/3 mutations represent a novel finding in dedifferentiated LPS (DDLPS) and are linked to poor outcomes.
- The FGFR pathway warrants further investigation for its role in DDLPS development and progression.
- PIK3CA mutations are a common event in myxoid cell LPS.
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