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Comparative Lesions Analysis Through a Targeted Sequencing Approach
Published on: November 5, 2019
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Integrated genomic and transcriptomic analysis revealed mutation patterns of de-differentiated liposarcoma and
Wenshuai Liu1, Hanxing Tong2, Chenlu Zhang3
1Department of General Surgery, Shanghai Public Health Clinical Center, Fudan University, Shanghai, China.
BMC Cancer
|October 29, 2020
Summary
This study reveals distinct molecular differences between leiomyosarcoma (LMS) and de-differentiated liposarcoma (DDLPS), common soft tissue sarcomas. DDLPS shows oncogene amplification and gene fusions, while LMS exhibits tumor suppressor loss, guiding targeted therapies.
Area of Science:
- Oncology
- Genomics
- Molecular Biology
Background:
- Soft tissue sarcomas (STS) present therapeutic challenges due to diverse subtypes.
- Leiomyosarcoma (LMS) and de-differentiated liposarcoma (DDLPS) are aggressive STS subtypes with distinct clinical behaviors but unclear molecular drivers.
Purpose of the Study:
- To investigate the distinct molecular profiles of LMS and DDLPS.
- To identify genetic variations and molecular mechanisms underlying differences between LMS and DDLPS.
Main Methods:
- Whole exome sequencing (WES) and RNA-sequencing (RNA-Seq) were performed on LMS and DDLPS samples.
- Analysis included somatic mutation profiling, differential gene expression, pathway enrichment, immune cell infiltration, and chromosomal rearrangements.
- RT-PCR and Sanger sequencing validated gene fusion events.
Main Results:
- DDLPS showed oncogene amplification (e.g., MDM2, CDK4, HMGA2) and more frequent gene fusions.
- LMS displayed loss-of-function mutations in tumor suppressors (e.g., TP53, ATRX, PTEN, RB1).
- Tumor microenvironment signatures correlated with histologic types, with DDLPS having higher endothelial cell and fibroblast content.
Conclusions:
- LMS and DDLPS exhibit divergent genetic alterations: DDLPS favors gene upregulation and amplification, while LMS favors suppressor gene loss.
- DDLPS has a higher frequency of gene fusions, potentially offering targets for personalized immunotherapy.
