Table 2.
Studies of methylation analysis of the sputum for the detection of lung cancer.
| Author | Year | Method | Prospective Study | Sample Size (Number of Patients) |
Gene | Sensitivity (%) | Specificity (%) |
|---|---|---|---|---|---|---|---|
| Belinsky et al. [37] | 1998 | MSP | No | LC (7) Smokers (26) |
p16 | p16 (43%) | p16 (81%) |
| Honorio et al. [38] | 2003 | MSP | No | SCLC (8) NSCLC (24) Chronic Smokers (13) |
RASSF1A | SCLC; RASSF1A (50%) NSCLC; RASSF1A (21%) Chronic Smokers; RASSF1A (31%) |
|
| Konno et al. [39] | 2004 | MSP | No | LC (78) None LC (52) |
APC, p16, RARβ | APC (28%), p16 (22%), RARβ (27%) | APC (96%), p16 (100%), RARβ (93%) |
| Belinsky et al. [41] | 2006 | Nested MSP | No | LC (98) Healthy Controls (92) |
BETA3, DAPK, GATA4, GATA5, HCAD, HLHP, IGFBP3, LAMC2, MGMT, PAX5α, PAX5β, p16, RASSF1A, SFRP1 | GATA5 (74%), LAMC2 (72%), SFRP1 (68%) | GATA5 (74%), LAMC2 (30%), SFRP1 (29%) |
| Cirincione et al. [40] | 2006 | MSP | No | LC (18) Healthy Controls (smoker) (112) |
p16, RARβ2, RASSF1A | At least 1 gene (50%) | At least 1 gene (38%) |
| Belinsky et al. [43] | 2007 | MSP | No | LC (Stage III) (72) | DAPK, GATA5, HCAD, MGMT, PAX5α, PAX5β, p16, RASSF1A | GATA5 (43%), MGMT (32%), p16 (40%) | |
| Shivapurkar et al. [42] | 2007 | qMSP | No | NSCLC (13) Controls without LC (25) |
APC, p16, RASSF1A, HS3ST2 | At least 1 gene (62%) | At least 1 gene (100%) |
| Shivapurkar et al. [44] | 2008 | qMSP | No | LC (13) Non Cancer (25) |
CYGB | CYGB (30%) | CYGB (100%) |
| Guzmán et al. [45] | 2012 | MSP | No | LC (26) COPD (23) Healthy Controls (33) |
CDH1, MGMT, p16 | LC CDH1 (35%), MGMT (65%), p16 (73%) COPD CDH1 (45%), MGMT (65%), p16 (70%) Healthy controls CDH1 (32%), MGMT (6%), p16 (9%) |
|
| Leng et al. [46] | 2012 | Nested MSP (cohort1) qMSP (cohort2) |
No | Cohort 1 LC (64) Non Cancer (64) Cohort 2 LC (40) Non Cancer (90) |
GATA5, PAX5α, SULF2 | Cohort 1 GATA5 (33%), PAX5α (25%), SULF2 (34%) Cohort 2 GATA5 (78%), PAX5α (63%), SULF2 (78%) |
Cohort 1 GATA5 (74%), PAX5α (80%), SULF2 (75%) Cohort 2 GATA5 (53%), PAX5α (67%), SULF2 (45%) |
| Hubers et al. [48] | 2014 | qMSP | No | LC (20) COPD (31) |
APC, CYGB, FAM19A4, HS3ST2, PHACTR3, PRDM14, RASSF1A | RASSF1A + 3OST2 (85%) | RASSF1A + 3OST2 (74%) |
| Hubers et al. [47] | 2014 | qMSP | No | Set1 LC (98) None LC (90) Set2 LC (60) none LC (445) |
APC, CYGB, RASSF1A | Set1; At least 1 gene (63%) Set2; At least 1 gene (90%) |
Set1; At least 1 gene (78%) Set2; At least 1 gene (47%) |
| Hubers et al. [49] | 2015 | qMSP | No | Learning set LC (73) none LC (86) Validation set LC (159) none LC (154) |
APC, CYGB, FA19A4, HS3ST2, PHACTR3, PRDM14, RASSF1A | Learning Set HS3ST2 + PHACTR3 + RASSF1A (82%) Validation Set HS3ST2 + PHACTR3 + RASSF1A (79%) |
Learning Set HS3ST2 + PHACTR3 + RASSF1A (66%) Validation Set HS3ST2 + PHACTR3 + RASSF1A (64%) |
| Hulbert et al. [50] | 2016 | qMSP | No | LC (90) none LC (24) |
CDO1, HOXA7, HOXA9, SOX17, TAC1, ZFP42 | HOXA7 + SOX17 + TAC1 (98%) | HOXA7 + SOX17 + TAC1 (71%) |
LC: Lung Cancer; COPD: Chronic Obstructive Pulmonary Disease.