Table 1.
Summary of recent publications using EV DNA for detection of specific mutations in cancer-related genes.
| Study | Fluid | Cancer Type | Patients | Technique | Genes Analyzed | Results |
|---|---|---|---|---|---|---|
| Kahlert et al., 2014 [93] | Blood (serum) | Pancreatic ductal adenocarcinoma | Human; 2 cancer (no stage given), 2 healthy | PCR, Sequencing (BigDye terminator kit) | KRAS, TP53 | Detected two different KRAS mutations and one TP53 mutation. |
| Lázaro-Ibáñez et al., 2014 [86] | Blood (plasma) | Prostate | Human; 4 cancer (T stages 1–3), 4 healthy | PCR, sequencing (BigDye terminator kit) | MLH1, PTEN, TP53 | Unable to detect specific mutations. |
| Thakur et al., 2014 [95] | Blood (plasma) | Melanoma | SK-MEL-28 cells xenografted into NOD/SCID mice; EVs collected when tumors reached max allowable size | Allele-specific PCR | BRAF (V600E) | Mutation detected. |
| San Lucas et al., 2016 [97] | Blood and pleural fluid | Pancreatic ductal adenocarcinoma (PDAC) and ampullary adenocarcinoma | Human; 2 PDAC and 1 ampullary adenocarcinoma | Next-generation sequencing | Whole genome | At least 10 potentially clinically actionable mutations identified in each patient. |
| Allenson et al., 2017 [99] | Blood (plasma) | Pancreatic ductal adenocarcinoma (PDAC) | Human; 68 PDAC (all stages), 20 PDAC patients whose blood was drawn after resection with curative intent, and 54 healthy controls | Droplet digital PCR | KRAS | Mutations detected in 7.4%, 66.7%, 80%, and 85% of controls, localized, locally advanced, and metastatic PDAC patients. |
| Möhrmann et al., 2017 [100] | Blood (plasma) | 46.5% colorectal, 18.6% melanoma, 14.0% non-small cell lung cancer, 20.9% other | Human; 43 progressing advanced cancers | Next-generation sequencing | BRAFV600, KRASG12/G13, EGFRexon19delL858R | Mutations in EV DNA which correspond to those in tissue found in 95% of cases. EV DNA did not contain mutations not present in the parental tumor cells. |
| Yang et al., 2017 [101] | Blood (serum) | Pancreatic ductal adenocarcinoma (PDAC), chronic pancreatitis (CP), intraductal papillary mucinous neoplasm (IPMN) | Human; 48 PDAC, 9 CP, 7 IPMN, 114 healthy controls | Digital PCR | KRASG12D, TP53R273H | KRAS mutation detected in 39.6% PDAC, 28.6% IPMN, 55.6% CP, 2.6% healthy controls. TP53 mutation detected in 4.2% PDAC, 14.2% IPMN, 0% CP, 0% healthy controls. |
| Castellanos-Rizaldos et al., 2018 [102] | Blood (serum) | Non-small cell lung cancer | Human; Training and test cohorts each with 51 mutation positive and 54 mutation negative samples | Allele-specific PCR | EGFRT790M | Training: 81% sensitivity, 95% specificity. Test: 92% sensitivity, 89% specificity |