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Table 2 Combination of DNA methylation from liquid biopsy as Biomarkers for lung cancer diagnosis

From: Methylated DNA/RNA in Body Fluids as Biomarkers for Lung Cancer

DNA methylation combination Body fluid Method Number of cases Number of controls Sensitivity%/specificity% or main findings References
RASSF1A/RARB2 Plasma/csbDNA qMSP 60 32 87/75 [78]
SHOX2/PTGER4 plasma Rt-PCR 117 122 67/90 or 90/73 [77]
RTEL1/PCDHGB6 cfDNA qMSP-PCR 70 80 62.9/90 (AUC0.755) [17]
HOXD10/PAX9/PTPRN2/STAG3 serum MSRE/qPCR 23 23 87.8/90.2 [109]
APC/RASSF1A/CDH13/KLK1/DLEC1 plasma MSP 110 50 83/70 [47]
APC/AIM1/CDH1/DCC/MGMT/RASSF1A serum qMSP 76 30 84/57 [79]
DAPK/PAX5b/PAX5a/Dal1/GATA5/SULF2/CXCL14 sputum MSP 40 90 75/68 [56]
MGMT/DAPK/PAX5β/Dal-1/PCDH20/Jph3/Kif1a 64 64
CSF3R/ERCC1 peripheral leukocyte pyrosequencing 138 138 Predict higher risk for SCLC [55]
CDH1/p16/MGMT/DAPK peripheral lymphocyte MSP 49 22 methylation of CDH1 and DAPK occurs in the early stages LC [53]
methylation of p16 and MGMT occurs in later stages LC
p16/RASSF1A/FHIT/RTL WBC DNA SYBR Green-based qMSP and qPCR 200 200 AUC 0.670–0.810 [54]
  1. qMSP quantitative methylation-specific PCR, Rt-PCR real-time PCR, MSRE Methylation-Sensitive Restriction Enzymes, qPCR quantitative PCR, csbDNA cell-surface-bound circulating DNA, LC lung cancer, SCLC small cell lung cancer, RASSF1A ras association domain family 1 isoform A, RARβ2 retinoic acid receptor B2, SHOX2 short stature homebox 2, PTGER4 prostaglandin E receptor 4, RTEL1 regulator of telomere elongation helicase 1, PCDHGB6 protocadherin gamma subfamily B, 6, HOXD10 homeobox D10, PAX9 paired box 9, PTPRN2 protein tyrosine phosphatase receptor type N2, STAG3 stromal antigen 3, APC adenomatous polyposis coli, DLEC1 Deleted in lung and esophageal cancer 1, CDH13 cadherin 13, KLK1 kallikrein 1, AIM1 absent in melanoma 1, CDH1 cadherin 1, DCC DCC netrin 1 receptor, MGMT O6 - methylguanine-DNA-methyltransferase, DAPK death-associated protein kinase, PAX5b paired box 5b, PAX5a paired box 5a, GATA5 GATA binding protein 5, SULF2 sulfatase 2, CXCL14 C-X-C motif chemokine ligand 14, PCDH20 protocadherin 20, Jph3 junctophilin 3, CSF3R colony stimulating factor 3 receptor, ERCC1 ERCC excision repair 1, FHIT fragile histidine triad, RTL relative telomere length, p16 cyclin-dependent kinase inhibitor 2A