Table 1. Diagnostic value of DNA methylation in plasma or serum.
Gene | Name | Cases/controls | Concordance rate between methylation in tumor and blood | Anatomical site | Stage | Specimen | Sensitivity | Specificity | AUC | Method | Reference |
---|---|---|---|---|---|---|---|---|---|---|---|
CDH1 | Cadherin 1 | 62/320 | All | NA | Serum | 32% | 73% | 0.53 | qMSPb | Carvalho et al. [34] (2008) | |
CCND2 | Cyclin D2 | 47/284 | All | NA | Serum | 6% | 98% | 0.52 | qMSPb | Carvalho et al. [34] (2008) | |
TGFBR2 | Transforming Growth Factor Beta Receptor 2 | 37/134 | All | NA | Serum | 8% | 94% | 0.51 | qMSPb | Carvalho et al. [34] (2008) | |
TIMP3 | TIMP Metallopeptidase Inhibitor 3 | 50/296 | All | NA | Serum | 10% | 95% | 0.52 | qMSPb | Carvalho et al. [34] (2008) | |
HIC1 | Hypermethylated in Cancer 1 | 70/373 | All | NA | Serum | 31% | 93% | 0.62 | qMSPb | Carvalho et al. [34] (2008) | |
PGP9.5 | Neuron Cytoplasmatic Protein 9.5 | 52/203 | All | NA | Serum | 8% | 98% | 0.53 | qMSPb | Carvalho et al. [34] (2008) | |
SEPT91 | Septin 9 | 137/170 | - | All | All | Plasma | 62% | 92% | 0.79 | quasi-digital PCR | De Vos et al. [38] (2017) |
SHOX21 | Short Stature Homeobox 2 | 137/170 | - | All | All | Plasma | 53% | 87% | 0.78 | quasi-digital PCR | De Vos et al. [38] (2017) |
SEPT92 | Septin 9 | 141/102 | - | All | All | Plasma | 55% | 90% | 0.75 | quasi-digital PCR | De Vos et al. [38] (2017) |
SHOX22 | Short Stature Homeobox 2 | 141/102 | - | All | All | Plasma | 43% | 95% | 0.77 | quasi-digital PCR | De Vos et al. [38] (2017) |
EDNRB | Endothelin Receptor Type B | 100/50 | - | All | All | Serum | 10% | 100% | qMSPb | Mydlarz et al. [35] (2016) | |
DCC | Deleted in Colo-rectal Cancer | 100/50 | - | All | All | Serum | 2% | 100% | qMSPb | Mydlarz et al. [35] (2016) | |
CDKN2A | Cyklin-Dependent Kinase Inhibitor 2A | 100/50 | - | All | All | Serum | 1% | 100% | qMSPb | Mydlarz et al. [35] (2016) | |
CDKN2A | Cyklin-Dependent Kinase Inhibitor 2A | 17/8 | 65% | Oral | All | Serum | 35% | 100% | MSPa | Nakahara et al. [39] (2005) | |
CDKN2A | Cyklin-Dependent Kinase Inhibitor 2A | 50/0 | 27% | All | All | Serum | 4% | - | MSPa | Sanchez-Cespedes et al. [40] (2000) | |
MGMT | O6-Methylguanine-DNA-Methyltransferase | 50/0 | 33% | All | All | Serum | 7% | - | MSPa | Sanchez-Cespedes et al. [40] (2000) | |
DAPK | Death-Associated Protein Kinase | 50/0 | 18% | All | All | Serum | 2% | - | MSPa | Sanchez-Cespedes et al. [40] (2000) | |
GSTP1 | Glutathione S-transferase p1 | 50/0 | 0% | All | All | Serum | 0% | - | MSPa | Sanchez-Cespedes et al. [40] (2000) | |
SHOX21 | Short Stature Homeobox 2 | 137/122 | - | All | All | Plasma | 50% | 95% | 0.80 | qPCR | Schröck et al. [37] (2017) |
SEPT91 | Septin 9 | 137/122 | - | All | All | Plasma | 57% | 95% | 0.79 | qPCR | Schröck et al. [37] (2017) |
SHOX22 | Short Stature Homeobox 2 | 141/102 | - | All | All | Plasma | 0.79 | qPCR | Schröck et al. [37] (2017) | ||
SEPT92 | Septin 9 | 141/102 | - | All | All | Plasma | 0.74 | qPCR | Schröck et al. [37] (2017) | ||
CDKN2A | Cyklin-Dependent Kinase Inhibitor 2A | 20/24 | 49% | All | All | Plasma | 65% (13/20) | 67% (16/24) | Real time PCR | Wong et al. [36] (2003) | |
CDKN2B | Cyklin-Dependent Kinase Inhibitor 2B | 20/24 | 60% | All | All | Plasma | 60% (12/20) | 50% (12/24) | Real time PCR | Wong et al. [36] (2003) |
a: Methylation specific PCR.
b: Quantitative methylation specific PCR.
c: Combined bisulfite restriction analysis.
1: Training Cohort.
2: Testing cohort.
*The test is between OSCC and OP. No healthy controls.