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Identification of somatic alterations in lipoma using whole exome sequencing.

Abstract：

: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.

journal_name

Sci Rep

journal_title

Scientific reports

authors

Kanojia D,Dakle P,Mayakonda A,Parameswaran R,Puhaindran ME,Min VLK,Madan V,Koeffler P

doi

10.1038/s41598-019-50805-w

subject

Has Abstract

pub_date

2019-10-07 00:00:00

pages

14370

issue

1

issn

2045-2322

pii

10.1038/s41598-019-50805-w

journal_volume

9

pub_type

杂志文章

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