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.

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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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