Page 91 - Read Online

Papadodima et al. J Transl Genet Genom 2019;3:7 Journal of Translational
DOI: 10.20517/jtgg.2018.33 Genetics and Genomics

Review Open Access

Genomics of cutaneous melanoma: focus on
next-generation sequencing approaches and

bioinformatics

Olga Papadodima , Georgia Kontogianni , Georgia Piroti , Ilias Maglogiannis , Aristotelis
1,2
1
2
1
Chatziioannou 1,3
1 National Hellenic Research Foundation, Institute of Biology, Medicinal Chemistry and Biotechnology, Athens 11635, Greece.
2 Department of Digital Systems, School of Information and Communication Technologies, University of Piraeus, Piraeus 18534, Greece.
3 e-NIOS Applications Private Company, Kallithea 17671, Greece.
Correspondence to: Dr. Olga Papadodima and Dr. Aristotelis Chatziioannou, National Hellenic Research Foundation, Institute of Biology,
Medicinal Chemistry and Biotechnology, 48 Vassileos Constantinou, Avenue 11635, Greece. E-mail: opapadod@eie.gr; achatzi@eie.gr

How to cite this article: Papadodima O, Kontogianni G, Piroti G, Maglogiannis I, Chatziioannou A. Genomics of cutaneous melanoma:
focus on next-generation sequencing approaches and bioinformatics. J Transl Genet Genom 2019;3:7.
https://doi.org/10.20517/jtgg.2018.33
Received: 12 Dec 2018 First Decision: 27 Dec 2018 Revised: 22 Jan 2019 Accepted: 23 Jan 2019 Published: 2 Apr 2019

Science Editor: David N. Cooper Copy Editor: Cai-Hong Wang Production Editor: Huan-Liang Wu

Abstract

Cutaneous melanoma is caused by the uncontrolled growth of epidermal melanocytes. Melanoma continues to be a
rare form of skin cancer but causes the majority of skin cancer related deaths. For many years the scientific community
has focused on the investigation of the pathogenesis leading to melanoma, with the aim of better understanding its
complexity and the potential advancement of therapeutic strategies. In this paper, the genomic features characterising
the development of cutaneous melanoma are reviewed. Next-generation sequencing technologies and bioinformatics
tools are currently state-of-the-art approaches in basic, applied and clinical cancer research. In this review, most of the
available tools for revealing the mutational landscape are outlined.

Keywords: Melanoma, bioinformatics, somatic mutations, next-generation sequencing

INTRODUCTION
Melanoma is a malignant tumour originating from melanocytes, the cells specialised to produce the
melanin pigment. Melanocytes derive from the neural crest, a transient embryonic structure, consisting of
[1]
highly migratory pluripotent cells, which give rise to a number of different cell types . During development,
melanocyte progenitors migrate, differentiate and colonize the skin-epidermis and hair follicles, the uvea

© The Author(s) 2019. Open Access This article is licensed under a Creative Commons Attribution 4.0
International License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use,
sharing, adaptation, distribution and reproduction in any medium or format, for any purpose, even commercially, 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.

www.jtggjournal.com