Medical bioinformatics in melanoma

Medical bioinformatics in melanoma Purpose of reviewBioinformatic insights from next-generation sequencing has been integral in understanding melanoma biology, resistance to treatment and provided new avenues for melanoma treatment. Whole-genome sequencing, whole-exome sequencing and RNA sequencing has redefined the molecular classification of melanoma, revealed distinct genetic aberrations that define clinical subtypes of melanoma and uncovered the diverse heterogeneity that resides in an individual tumor.Recent findingsIn this review, we will summarize the recent whole-genome study that catalogs the genomic landscape across many melanoma subtypes, the single-cell RNA sequencing studies that interrogates tumor heterogeneity and the personalized vaccine approaches to melanoma treatment.SummaryWhole-genome sequencing of diverse subtypes of melanoma revealed acral and mucosal subtypes to have a different genomic landscape compared with cutaneous melanoma. Acral and mucosal melanomas are characterized by low mutation burden and high structural variants. Single-cell RNA sequencing revealed high intratumoral heterogeneity and the existence of rare intrinsic drug-resistant populations. Lastly, vaccination against tumor neoantigens could be a potential personalized medicine therapy for melanoma patients. In summary, bioinformatics research is deeply ingrained in all aspects of melanoma research and will continue to blossom together for many years to come. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Current Opinion in Oncology Wolters Kluwer Health

Medical bioinformatics in melanoma

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Publisher
Wolters Kluwer
Copyright
Copyright © 2018 Wolters Kluwer Health, Inc. All rights reserved.
ISSN
1040-8746
eISSN
1531-703X
D.O.I.
10.1097/CCO.0000000000000428
Publisher site
See Article on Publisher Site

Abstract

Purpose of reviewBioinformatic insights from next-generation sequencing has been integral in understanding melanoma biology, resistance to treatment and provided new avenues for melanoma treatment. Whole-genome sequencing, whole-exome sequencing and RNA sequencing has redefined the molecular classification of melanoma, revealed distinct genetic aberrations that define clinical subtypes of melanoma and uncovered the diverse heterogeneity that resides in an individual tumor.Recent findingsIn this review, we will summarize the recent whole-genome study that catalogs the genomic landscape across many melanoma subtypes, the single-cell RNA sequencing studies that interrogates tumor heterogeneity and the personalized vaccine approaches to melanoma treatment.SummaryWhole-genome sequencing of diverse subtypes of melanoma revealed acral and mucosal subtypes to have a different genomic landscape compared with cutaneous melanoma. Acral and mucosal melanomas are characterized by low mutation burden and high structural variants. Single-cell RNA sequencing revealed high intratumoral heterogeneity and the existence of rare intrinsic drug-resistant populations. Lastly, vaccination against tumor neoantigens could be a potential personalized medicine therapy for melanoma patients. In summary, bioinformatics research is deeply ingrained in all aspects of melanoma research and will continue to blossom together for many years to come.

Journal

Current Opinion in OncologyWolters Kluwer Health

Published: Mar 1, 2018

References

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