Table 2. Summary of DNA-based cyst-fluid biomarkers.
| Year | First author | Biomarker | Sample size | Sample distribution | Phase | Observations |
|---|---|---|---|---|---|---|
| 2005 | Khalid et al.29 | KRAS mutation DNA quantity, quality, no. of mutations, and sequence of mutations | 36 | 15 Premalignant 11 Malignant | 2 | Difference observed with DNA quantity, quality, no. of mutations, and presence of KRAS mutation plus by LOH |
| 2006 | Schoedel et al.30 | KRAS mutation, LOH | 16 | IPMN: 4 HGD/Cancer vs. 12 (LGD/MGD) | 2 | KRAS mutation plus LOH present 50% of HGD/cancers vs. 8% in (LGD/MGD) premalignant IPMNs |
| 2009 | Khalid et al.31 | KRAS mutation, DNA quantity, allelic loss, mutational amplitude, and sequence of mutations | 113 | 40 Malignant 48 Premalignant 25 Benign | 2 | KRAS mutation had good specificity (96%) but limited sensitivity (45%) for mucinous cysts. KRAS mutations followed by allelic loss had limited sensitivity (37%) but good specificity (96%) for diagnosis of malignancy. Mean allelic loss amplitude (MALA) had the best diagnostic performance for distinguishing malignancy cysts. |
| 2009 | Sawhney et al.32 | KRAS mutation, DNA quantity, allelic loss | 19 | 17 Mucinous 2 Non-mucinous | 2 | DNA quantity: sensitivity 76% and specificity 100% for diagnosing mucinous cyst. |
| 2009 | Shen et al.33 | DNA Pathfinder TG | 35 | 6 Malignant 15 Pre-malignant, 14 Benign | 2 | Malignancy: sensitivity 83%, specificity 100% mucinous: sensitivity 86% specificity 93% |
| 2009 | Sreenarasimhaiah et al.34 | DNA Pathfinder TG | 20 | 2 Malignant 7 Pre-malignant 11 Benign | 2 | Mucinous: sensitivity 33%, specificity 92% |
| 2011 | Wu et al.38 | GNAS and KRAS mutations | 147 | 84 IPMN 21 MCN 42 SCA | 2 | GNAS mutations: 61% of IPMNs, 0% SCAs, 0% MCNs, KRAS mutations: 82% of IPMNs, 0% in SCAs and 33% MCNs |
| 2012 | Talar-Wojnarowski et al.35 | KRAS mutation | 56 | 17 Mucinous 39 Benign non-mucinous | 2 | Mucinous: sensitivity 65%, specificity 97% |
| 2013 | Siddiqui et al.39 | GNAS and KRAS mutations | 25 | 9 IPMN 16 non-IPMN | 2 | KRAS mutation (+) 60–70% Mucinous Cysts GNAS mutation (+) 44% IPMNs, 0% other mucinous cysts. All IPMNs had either KRAS or GNAS. |
| 2013 | Al-Haddad et al.37 | KRAS mutation | 48 | 38 Mucinous 10 Non-mucinous | 2 | Mucinous: sensitivity 50%, specificity 80% |
| 2013 | Nikifovora et al.36 | KRAS mutation | 142 | 12 Malignant 85 Pre-malignant 45 Benign non-mucinous | 2 | Mucinous: sensitivity 54%, specificity 100% |
| 2014 | Amato et al.41 | Next-generation sequencing | 10 | 10 IPMNs | 1 | 7 Out of 10 cyst-fluid samples provided adequate DNA for deep sequencing |
| 2014 | Singhi et al.40 | GNAS and KRAS mutations | 91 | 50 IPMNs, 16 MCNs, 25 Non-mucinous | 2 | Mucinous: GNAS or KRAS mutation sensitivity 65%, specificity 100% IPMNs: GNAS or KRAS mutation sensitivity 84%, specificity 98%. |
EUS, endoscopic ultrasound; FNA, fine needle aspiration; IPMN, intraductal papillary mucinous neoplasms; GNAS, guanine nucleotide-binding protein G subunit alpha isoforms short; LOH, loss of heterozygosity; MALA, mean allelic loss amplitudeic neoplasms; PC, pseudocysts; SCN, serous cystic neoplasms.