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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...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6779901/ https://www.ncbi.nlm.nih.gov/pubmed/31591430 http://dx.doi.org/10.1038/s41598-019-50805-w |
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author | Kanojia, Deepika Dakle, Pushkar Mayakonda, Anand Parameswaran, Rajeev Puhaindran, Mark E. Min, Victor Lee Kwan Madan, Vikas Koeffler, Phillip |
author_facet | Kanojia, Deepika Dakle, Pushkar Mayakonda, Anand Parameswaran, Rajeev Puhaindran, Mark E. Min, Victor Lee Kwan Madan, Vikas Koeffler, Phillip |
author_sort | Kanojia, Deepika |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-6779901 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Nature Publishing Group UK |
record_format | MEDLINE/PubMed |
spelling | pubmed-67799012019-10-16 Identification of somatic alterations in lipoma using whole exome sequencing Kanojia, Deepika Dakle, Pushkar Mayakonda, Anand Parameswaran, Rajeev Puhaindran, Mark E. Min, Victor Lee Kwan Madan, Vikas Koeffler, Phillip Sci Rep Article 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. Nature Publishing Group UK 2019-10-07 /pmc/articles/PMC6779901/ /pubmed/31591430 http://dx.doi.org/10.1038/s41598-019-50805-w Text en © The Author(s) 2019 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. |
spellingShingle | Article Kanojia, Deepika Dakle, Pushkar Mayakonda, Anand Parameswaran, Rajeev Puhaindran, Mark E. Min, Victor Lee Kwan Madan, Vikas Koeffler, Phillip Identification of somatic alterations in lipoma using whole exome sequencing |
title | Identification of somatic alterations in lipoma using whole exome sequencing |
title_full | Identification of somatic alterations in lipoma using whole exome sequencing |
title_fullStr | Identification of somatic alterations in lipoma using whole exome sequencing |
title_full_unstemmed | Identification of somatic alterations in lipoma using whole exome sequencing |
title_short | Identification of somatic alterations in lipoma using whole exome sequencing |
title_sort | identification of somatic alterations in lipoma using whole exome sequencing |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6779901/ https://www.ncbi.nlm.nih.gov/pubmed/31591430 http://dx.doi.org/10.1038/s41598-019-50805-w |
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