Identification of somatic alterations in lipoma using whole exome sequencing

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 s...

Full description

Saved in:
Bibliographic Details
Published in:Scientific reports 2019-10, Vol.9 (1), p.14370-7, Article 14370
Main Authors: Kanojia, Deepika, Dakle, Pushkar, Mayakonda, Anand, Parameswaran, Rajeev, Puhaindran, Mark E., Min, Victor Lee Kwan, Madan, Vikas, Koeffler, Phillip
Format: Article
Language:English
Subjects:
45/22
45/77
631/67/69
692/4028/67/69
Adult
Aged
Benign
Calcium
Cell proliferation
Cell Proliferation - genetics
Cell survival
Codon, Nonsense - genetics
Copy number
DNA Copy Number Variations - genetics
Exome - genetics
Exome Sequencing
Female
Frameshift mutation
Frameshift Mutation - genetics
Humanities and Social Sciences
Humans
INDEL Mutation - genetics
Lipoma
Lipoma - genetics
Lipoma - pathology
Male
Medical prognosis
Middle Aged
Missense mutation
multidisciplinary
Mutation
Mutation, Missense - genetics
Phospholipase D
Phosphotransferases - genetics
Science
Science (multidisciplinary)
Transcription factors
Transcription Factors - genetics
Tumors
Wnt protein
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:2045-2322
2045-2322
DOI:10.1038/s41598-019-50805-w