Figure 3.
Ectopic PEG10 expression in MF-LCT is linked to genetic gains of 7q21.3, promoter demethylation, and loss-of-imprinting of PEG10. (A) Representative tissue FISH images of 3 main amplification patterns of 7q21.3 in MF-LCT and a diploid case in MF-NLCT. O: 7q21.3; G: CEN7. (B) FISH enumeration results of skin-biopsied samples from MF-LCT(n = 21) and MF-NLCT(n = 19) patients. Percentages (%) of nuclei with 7q21.3 gain (O >2) in these 2 groups are shown on the right panel. *P < .0001. (C) Spearman correlation between PEG10 mRNA expression and percentages of nuclei with 7q21.3 gain in MF lesions. n = 39, r = 0.667, **P < .0001. (D) PEG10 mRNA expression and percentages of nuclei with 7q21.3 gain before and after disease progression in 2 MF patients. Pt, patient. (E) PEG10 allelic expression patterns in MF-LCT (n = 8) and MF-NLCT (n = 8) samples from RNA-seq data. (F) Schematic description of the detected CpG sites at PEG10 promoter region. (G) Quantitative methylation analysis on CpG sites at PEG10 promoter region among MF-LCT group (n = 6) and MF-NLCT group (n = 6). Average PEG10 promoter methylation levels of each sample are shown on the right panel. Methylation level 1 represents 100% methylated CpG dinucleotides on this site.