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Molecular Profiling Defines Three Subtypes of Synovial Sarcoma
Yi Chen1,2,3,4,5, Yanhong Su4, Xiaofang Cao4,5
1Division of Hematology and Oncology, Department of Medicine, Columbia Stem Cell Initiative, Columbia University Irving Medical Center, New York, 10032, USA.
Advanced Science (Weinheim, Baden-Wurttemberg, Germany)
|September 11, 2024
Summary
Synovial sarcomas (SS) exhibit diverse subtypes driven by genomic events. This study identifies three SS subtypes with distinct clinical outcomes and molecular features, revealing a higher prevalence of high-risk tumors than previously recognized.
Area of Science:
- Oncology
- Genomics
- Molecular Biology
Background:
- Synovial sarcomas (SS) are defined by the SS18::SSX fusion gene, impacting chromatin and BAF complex.
- Phenotypic diversity in SS necessitates understanding underlying genomic events.
Purpose of the Study:
- To elucidate genomic events driving SS phenotypic diversity.
- To identify distinct SS subtypes and their clinical implications.
Main Methods:
- RNA and targeted DNA sequencing of 91 SS tumors.
- Proteomic analysis, public gene expression cohorts, and single-cell RNA sequencing for validation.
Main Results:
- Identified three SS subtypes mirroring histological classifications.
- Subtype I: hyperproliferation, immune evasion, poor prognosis.
- Subtype II: vascular-stromal, better outcome.
- Subtype III: biphasic differentiation, genomic complexity, immune suppression, poor prognosis.
- Chromosomal abnormalities are a risk factor for metastasis.
- KRT8 identified as key for epithelial differentiation, potentially regulated by OVOL1.
Conclusions:
- Findings explain SS histological classification and reveal a higher proportion of high-risk SS (Subtype I) than previously estimated.
- Genomic complexity and immune suppression characterize high-risk SS subtypes.
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