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Structural Variants in the SMC1A Gene Associated With Near-Haploidy in Undifferentiated Pleomorphic Sarcomas
Sebastian Ibstedt1, Paul Piccinelli1, Saskia Sydow2
1Department of Clinical Genetics, Pathology, and Molecular Diagnostics, Office for Medical Services, Region Skåne, Lund, Sweden.
Genes, Chromosomes & Cancer
|August 16, 2024
Summary
Near-haploidization, a rare chromosomal event, is linked to cohesin defects in undifferentiated pleomorphic sarcoma (UPS). This study identifies SMC1A gene rearrangements as a potential cause of massive chromosome loss in UPS tumors.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Near-haploidization, characterized by the loss of one chromosome copy, is infrequent in most cancers but prevalent in specific soft tissue sarcomas like undifferentiated pleomorphic sarcoma (UPS).
- The underlying mechanisms driving near-haploidization in tumors remain largely unexplored.
Purpose of the Study:
- To investigate gene rearrangements associated with the development of near-haploidization.
- To identify specific genetic alterations contributing to this phenomenon in undifferentiated pleomorphic sarcoma.
Main Methods:
- Single nucleotide polymorphism (SNP) array analysis to detect chromosomal copy number variations.
- Whole genome and transcriptome sequencing for comprehensive genetic profiling.
- Cytogenetic and molecular cytogenetic techniques for detailed chromosomal analysis.
Main Results:
- Two cases of undifferentiated pleomorphic sarcoma (UPS) exhibited near-haploidization as an early event.
- Chromosomal rearrangements, including copy number shifts and structural variants, were identified affecting the SMC1A gene in both tumors.
- SMC1A gene alterations suggest a role for cohesin complex dysfunction in inducing mitotic errors and subsequent chromosome loss.
Conclusions:
- Cohesin defects, potentially arising from SMC1A gene alterations, may drive near-haploidization in undifferentiated pleomorphic sarcoma.
- Further research is warranted to elucidate the broader role of cohesin dysfunction in sarcomagenesis and near-haploidization across various tumor types.
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