TABLE 1.
Somatic Mutation Prevalence of Commonly Altered Genes in Pancreatic Neoplasms
Neoplasm | Chromosome(s) | Gene(s) | Alteration Prevalence | Gene Function |
---|---|---|---|---|
PDA | 12 | KRAS | 95% | Cell signaling (mitogen-activated protein kinase [MAPK] pathway, etc) |
9 | P16/CDKN2A | 95% | Cell cycle regulation | |
17 | TP53 | 75% | Cellular stress response | |
18 | SMAD4/DPC4 | 55% | Cell signaling (TGF-β receptor pathway) | |
IPMN | 12 | KRAS | 80% | Cell signaling (MAPK pathway etc) |
17 | RNF43 | 75% | Ubiquitin ligase | |
20 | GNAS | 60% | Cell signaling (adenylyl cyclase pathway, etc) | |
9 | P16/CDKN2A | Only in HGD/carcinoma | Cell cycle regulation | |
17 | TP53 | Only in HGD/carcinoma | Cellular stress response | |
18 | SMAD4/DPC4 | Only in HGD/carcinoma | Cell signaling (TGF-β receptor pathway) | |
3 | PIK3CA | 10% | Cell signaling (PI3K [phosphatidylinositol 3-OH kinase] pathway) | |
MCN | 12 | KRAS | 80% | Cell signaling (MAPK pathway, etc) |
17 | RNF43 | 40% | Ubiquitin ligase | |
9 | P16/CDKN2A | Only in HGD/carcinoma | Cell cycle regulation | |
17 | TP53 | Only in HGD/carcinoma | Cellular stress response | |
18 | SMAD4/DPC4 | Only in HGD/carcinoma | Cell signaling (TGF-β receptor pathway) | |
SCA | 3 | VHL | 50% | Ubiquitin ligase (HIE-1α pathway) |
SPN | 3 | CTNNB1 | 95% | Cell signaling (WNT pathway), cell adhesion |
PanNET | 11 | MEN1 | 45% | Unknown |
6/X | DAXX/ATRX | 45% | Chromatin remodeling (alternative lengthening of telomeres) | |
Multiple | mTOR pathway | 15% | Cell signaling (PI3K pathway) | |
ACC | 3 | CTNNB1 | 5% | Cell signaling (WNT pathway), cell adhesion |
5 | APC | 15% | Cell signaling (WNT pathway), cell adhesion | |
PB | 3 | CTNNB1 | 55% | Cell signaling (WNT pathway), cell adhesion |
5 | APC | 10% | Cell signaling (WNT pathway), cell adhesion | |
11 | Unknown | 85% | Unknown |
PDA indicates pancreatic ductal adenocarcinoma; ACC, acinar cell carcinoma; PB, pancreatoblastoma; HGD, high-grade dysplasia; carcinoma: invasive carcinoma; MCN, mucinous cystic neoplasm; PanNET, pancreatic neuroendocrine tumor; SCA, serous cystic neoplasm; SPN, solid-pseudopapillary neoplasm.