Identification of somatic alterations in lipoma using whole exome sequencing.
Deepika KanojiaPushkar DakleAnand MayakondaRajeev ParameswaranMark E PuhaindranVictor Lee Kwan MinVikas MadanH Phillip KoefflerPublished in: Scientific reports (2019)
Lipomas are benign fatty tumors with a high prevalence rate, mostly found in adults but have a good prognosis. Until now, reason for lipoma occurrence not been identified. We performed whole exome sequencing to define the mutational spectrum in ten lipoma patients along with their matching control samples. We presented genomic insight into the development of lipomas, the most common benign tumor of soft tissue. Our analysis identified 412 somatic variants including missense mutations, splice site variants, frameshift indels, and stop gain/lost. Copy number variation analysis highlighted minor aberrations in patients. Kinase genes and transcriptions factors were among the validated mutated genes critical for cell proliferation and survival. Pathway analysis revealed enrichment of calcium, Wnt and phospholipase D signaling in patients. In conclusion, whole exome sequencing in lipomas identified mutations in genes with a possible role in development and progression of lipomas.
Keyphrases
- copy number
- end stage renal disease
- cell proliferation
- mitochondrial dna
- newly diagnosed
- genome wide
- chronic kidney disease
- ejection fraction
- peritoneal dialysis
- prognostic factors
- stem cells
- dna methylation
- risk factors
- soft tissue
- autism spectrum disorder
- patient reported
- bioinformatics analysis
- genome wide analysis