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

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

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	sputum	MSP	64	64	75/68	[56]
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]
CDH1/p16/MGMT/DAPK	peripheral lymphocyte	MSP	49	22	methylation of p16 and MGMT occurs in later stages LC	[53]
p16/RASSF1A/FHIT/RTL	WBC DNA	SYBR Green-based qMSP and qPCR	200	200	AUC 0.670–0.810	[54]

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

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