Abstract
Telomerase Expression by Aberrant Methylation of the TERT Promoter in Melanoma Arising in Giant Congenital Nevi
Highlights
We previously showed that an aggressive form of pediatric melanoma developing within giant congenital nevi (GCN) retains the wild-type telomerase reverse transcriptase (TERT) promoter (Lu et al, 2015)
Almost all 26 CpG sites in the sequenced region were highly methylated in the three melanomas arising in GCN (S1, S2, S21) and in the one conventional melanoma bearing wild-type TERT promoter (S22), whereas the CpG sites remained predominantly unmethylated in the 9 mutant TERT promoter melanomas and the 10 benign or borderline melanocytic neoplasms (Figure 1)
TERT Chr5:1295586−1295771,26 CpGs generally considered a signature of gene silencing, TERT expression is paradoxically increased by promoter methylation (Guilleret and Benhattar, 2004)
Summary
We previously showed that an aggressive form of pediatric melanoma developing within giant congenital nevi (GCN) retains the wild-type TERT promoter (Lu et al, 2015). Almost all 26 CpG sites in the sequenced region were highly methylated in the three melanomas arising in GCN (S1, S2, S21) and in the one conventional melanoma bearing wild-type TERT promoter (S22), whereas the CpG sites remained predominantly unmethylated in the 9 mutant TERT promoter melanomas and the 10 benign or borderline melanocytic neoplasms (Figure 1). We evaluated the association of TERT promoter CpG methylation with telomerase expression by TERT mRNA in situ hybridization and by gene expression analysis (Supplementary Methods).
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