Table 1:
Lesion | Driver Gene | Mutation Prevalence |
Common alterations | Reference |
---|---|---|---|---|
Low-grade PanIN | KRAS | >90% | Missense mutation (codons 12, 13, 61) | [9–11] |
p16/CDKN2A | 0-12% | Inactivating mutation/LOH, homozygous deletion, promoter hypermethylation | [17–24] | |
TP53 | <5% | Missense mutation/LOH | [11,19,28–30] | |
SMAD4 | <5% | Inactivating mutation/LOH, homozygous deletion | [11,19,27–30] | |
High-grade PanIN | KRAS | >95% | Missense mutation (codons 12, 13, 61) | [9–11] |
p16/CDKN2A | 18% | Inactivating mutation/LOH, homozygous deletion, promoter hypermethylation | [17–24] | |
TP53 | 10-15% | Missense mutation/LOH | [11,19,28–30] | |
SMAD4 | <5% | Inactivating mutation/LOH, homozygous deletion | [11,19,27–30] | |
Low-grade IPMN | KRAS | 43-89% | Missense mutation (codons 12, 13, 61) | [47–53] |
GNAS | 41-77% | Missense mutation (codon 201) | [50,52,54,55] | |
RNF43 | 10% | Inactivating mutation/LOH | [59] | |
p16/CDKN2A | <5% | Inactivating mutation/LOH, homozygous deletion, promoter hypermethylation | [53,54,59] | |
TP53 | <5% | Missense mutation/LOH | [53,59] | |
SMAD4 | <5% | Inactivating mutation/LOH, homozygous deletion | [53,54,59] | |
High-grade IPMN | KRAS | 34-71% | Missense mutation (codons 12, 13, 61) | [47–53] |
GNAS | 42-72% | Missense mutation (codon 201) | [50,52,54,55] | |
RNF43 | 25-75% | Inactivating mutation/LOH | [54,57,59] | |
p16/CDKN2A | 0-15% | Inactivating mutation/LOH, homozygous deletion, promoter hypermethylation | [53,54,59] | |
TP53 | 18-20% | Missense mutation/LOH | [53,59] | |
SMAD4 | <5% | Inactivating mutation/LOH, homozygous deletion | [53,54,59] | |
Low-grade MCN | KRAS | 3-26% | Missense mutation (codons 12, 13, 61) | [91–93] |
GNAS | 0% | Missense mutation (codon 201) | [50,52,54] | |
RNF43 | 12% | Inactivating mutation/LOH | [54] | |
p16/CDKN2A | 0-14% | Inactivating mutation/LOH, homozygous deletion, promoter hypermethylation | [93,95,96] | |
TP53 | 0% | Missense mutation/LOH | [54,93,95] | |
SMAD4 | 0% | Inactivating mutation/LOH, homozygous deletion | [95,98] | |
High-grade MCN | KRAS | 50-100% | Missense mutation (codons 12, 13, 61) | [91–93] |
GNAS | 0% | Missense mutation (codon 201) | [50,52,54] | |
RNF43 | 25% | Inactivating mutation/LOH | [54] | |
p16/CDKN2A | 50-59% | Inactivating mutation/LOH, homozygous deletion, promoter hypermethylation | [93,95,96] | |
TP53 | 25-56% | Missense mutation/LOH | [54,93,95] | |
SMAD4 | 0% | Inactivating mutation/LOH, homozygous deletion | [95,98] |