Mutational Profiling of Lipomas

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 identified 412 somatic variants including missense mutations, splice site variants, frameshift indels, and stop gain/lost. 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. Whole exome sequencing in lipomas identified mutations in genes with a possible role in development and progression of lipomas.Author Summary We presented genomic insight into the development of lipomas, the most common benign tumor of soft tissue. Until date, no one knows the cause of lipoma development and its progression. Our group for the first time profiled ten lipoma patients’ samples and their matching normal controls to delineate the somatic mutation pattern using whole exome sequencing. Interestingly, exome-profiling results highlighted the potential role of important kinase genes and transcription factors in lipoma development. In addition, calcium, Wnt and phospholipase D signaling pathway speculated to be involve in pathogenesis of this disease.