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Chromosomal microarray analysis of benign mesenchymal tumors with RB1 deletion
Anna C Dusenbery1, Jonathan J Davick1, Robin D LeGallo1
1Department of Pathology, University of Virginia, Charlottesville, VA, USA.
Human Pathology
|August 18, 2020
Summary
Benign mesenchymal tumors like spindle cell lipomas often share RB1 gene deletions. This study used genome-wide analysis to characterize these deletions and other genetic changes, revealing insights into tumor development.
Area of Science:
- Oncology
- Genetics
- Pathology
Background:
- Spindle cell lipomas, pleomorphic lipomas, myofibroblastomas, and cellular angiofibromas are benign mesenchymal tumors with overlapping histology and molecular profiles.
- These tumors frequently exhibit 13q14 deletions, affecting the RB1 tumor suppressor gene, but comprehensive molecular characterization is lacking.
Purpose of the Study:
- To characterize RB1 deletions and identify additional molecular abnormalities in these mesenchymal neoplasms.
- To evaluate the utility of the OncoScan™ CNV Plus Assay for comprehensive genomic profiling of these rare tumors.
Main Methods:
- Utilized the OncoScan™ CNV Plus Assay for whole-genome copy number variation analysis.
- Analyzed eleven cases of spindle cell lipomas/pleomorphic lipomas, mammary-type myofibroblastomas, and cellular angiofibromas.
Main Results:
- RB1 gene deletion was observed in ten out of eleven cases, with variable deletion sizes and breakpoints.
- The majority of additional genetic alterations involved chromosomal losses and loss of heterozygosity, with rare chromosomal gains.
Conclusions:
- The study confirms frequent RB1 deletions in these benign mesenchymal tumors and highlights the presence of other genomic alterations.
- Genome-wide copy number analysis provides a more comprehensive molecular profile, aiding in understanding the pathogenesis of these neoplasms.
