Study
The Genomic Landscape of Childhood and Adolescent Melanoma
Study ID | Alternative Stable ID | Type |
---|---|---|
EGAS00001000901 | Other |
Study Description
Despite remarkable advances in the genomic characterization of adult melanoma, the molecular pathogenesis of pediatric melanoma remains largely unknown. We analyzed 15 conventional melanomas (CM), 3 melanomas arising in congenital nevi (CNM), and 5 spitzoid melanomas (SM), using various platforms, including whole genome or exome sequencing, molecular inversion probe assay, and/or targeted sequencing. CM demonstrated a high burden of somatic single nucleotide variations (SNV), with each case containing a TERT promoter (TERT-p) mutation, 13/15 containing an activating BRAF V600 mutation, and >80% of the identified SNV consistent with UV damage. By contrast, the 3 CNM contained an activating NRAS Q61 mutation and no TERT-p mutations. SM were characterized by chromosomal rearrangements resulting in activated kinase signaling in 40%, and an absence of TERT-p mutations except for the one SM that succumbed to hematogenous metastasis. We conclude that pediatric CM has a very similar UV-induced mutational spectrum to that found in the adult counterpart, emphasizing the need to promote sun ... (Show More)
Study Datasets 4 datasets.
Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data
Dataset ID | Description | Technology | Samples |
---|---|---|---|
EGAD00001001032 |
DATA FILES FOR SJMEL-WGS
|
Illumina HiSeq 2000 | 12 |
EGAD00001001246 |
DATA FILES FOR PCGP SJMEL WXS
|
Illumina HiSeq 2000 | 28 |
EGAD00001001247 |
DATA FILES FOR PCGP SJMEL RNASEQ
|
Illumina HiSeq 2000 | 7 |
EGAD00001001432 |
PCGP Germline Study Whole Genome Sequencing
|
Illumina HiSeq 2000 | 1337 |
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