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. 2022 Oct 24;12(11):2573. doi: 10.3390/diagnostics12112573

Table 1.

Overview of studies investigating the diagnostic utility of KRAS and GNAS in branch duct IPMN.

Author Molecular Marker(s) Key Findings Diagnostic Parameters Conclusions
Ren (2021) [15] BRAF, KRAS, GNAS In 60% of KRAS-/GNAS+ branch duct IPMNs, alternate BRAF mutations were present BRAF variant allele frequencies: 15.7–46.9%
GNAS variant allele frequencies: 21.3–50.5%
Somatic BRAF mutations are indicated in the carcinogenesis of KRAS negative branch duct IPMNs
Singhi (2018) [16] KRAS, GNAS, CEA Next generation sequencing detected KRAS/GNAS mutations in 100% of branch duct IPMNs KRAS and/or GNAS detection was 100% sensitive and 96% specific for branch duct IPMN KRAS and/or GNAS mutations are highly sensitive and specific for branch duct IPMN identification
Singhi (2014) [25] KRAS, GNAS GNAS/KRAS mutations aid in mucinous differentiation and identification of branch duct IPMNs Branch duct IPMN identification: Sensitivity 84% and Specificity 98%
Mucinous differentiation: Sensitivity 65% and Specificity 100%
Multi-gene analysis of GNAS and KRAS was highly sensitive and specific for branch duct IPMN identification
Singhi (2016) [26] KRAS, GNAS KRAS and/or GNAS were identified in all 23 IPMNs The sensitivity and specificity of KRAS and/or GNAS for IPMN reached 100% KRAS and GNAS mutational analysis is very sensitive and specific for branch duct IPMN diagnosis
Kadayifci (2017) [27] KRAS, GNAS, CEA GNAS/KRAS mutations are specific for branch duct IPMNs but have low diagnostic accuracy however diagnostic accuracy improved when both are used in conjunction with CEA Diagnostic accuracy (%):
KRAS 76.6
GNAS 70
KRAS/GNAS 80.7
KRAS/GNAS/CEA 86
KRAS and GNAS mutations along with elevated CEA is accurate for branch duct IPMN diagnosis