Table 2.
Distinct mutations identified by next-generation sequencing
| Case | Gene | Type of mutation | Protein change |
|---|---|---|---|
| Case 1 (Typical IOPN) | ARHGAP26 | Missense mutation | p.K592N |
| EPHA8 | Missense mutation | p.R384H | |
| MLL2 | Missense mutation | p.G1281R | |
| PTPN11 | Missense mutation | p.F438V | |
| Case 2 (Typical IOPN) | EPHA8 | Missense mutation | p.R375H |
| EPHB1 | Missense mutation | p.P457L | |
| ERBB2 | Missense mutation | p.R47H | |
| JAK3 | Missense mutation | p.V718L | |
| PIK3R1 | Missense mutation | p.P194T | |
| PIK3R3 | Missense mutation | p.R49Q | |
| MLL | Missense mutation | p.P1840S | |
| NOTCH1 | Missense mutation | p.R2272H | |
| NOTCH1 | Missense mutation | p.N104S | |
| RNF43 | Frameshift deletion | p.L61fs | |
| Case 3 (Typical IOPN) | ERBB4 | Missense mutation | p.L1163M |
| EPHA10 | Missense mutation | p.A453V | |
| GLI3 | Missense mutation | p.S1137R | |
| RB1 | Frameshift deletion | p.T5fs | |
| Case 4 (Typical IOPN)a | ARHGAP26 | Missense mutation | p.P4Q |
| NTRK3 | Missense mutation | p.L629H | |
| RICTOR | Missense mutation | p.D1357Y | |
| Case 5 (Typical IOPN)a | NKX2-1 | Frameshift deletion | 236_237GG>G |
| TEK | Missense mutation | p.T401M | |
| Case 6 (Typical IOPN) | ASXL1 | Missense mutation | p.V119L |
| ABL2 | Missense mutation | p.S1000P | |
| NOTCH2 | Missense mutation | p.R1372W | |
| RET | Missense mutation | p.T244I | |
| RET | Missense mutation | p.K1011E | |
| Case 7 (Typical IOPN) | PAX5 | Nonsense mutation | p.R377 |
| Case 8 (Typical IOPN) | ASXL1 | Frameshift deletion | p.M341fs |
| Case 9 (Typical IOPN)b | ERBB4 | Missense mutation | p.L939F |
| KDM6A | Frameshift deletion | p.L416fs | |
| Case 10 (Intraductal neoplasm with flat oncocytic epithelium) | KRAS | Missense mutation | p.G12V |
| Case 11 (Predominantly intestinal subtype IPMN with a distinct focus of oncocytic epithelium)b | Intestinal subtype IPMN | ||
| TP53 | Missense mutation | p.S241F | |
| TP53 | Missense mutation | p.R248W | |
| TP53 | Nonsense mutation | p.W146 | |
| GNAS | Missense mutation | p.R844C | |
| RNF43 | Missense mutation | p.M1I | |
| Oncocytic epithelium | |||
| ATRX | Missense mutation | p.E1492G | |
| PDGFRA | Missense mutation | p.T230M | |
| TP53 | Missense mutation | p.S241F | |
| TP53 | Nonsense mutation | p.W146 | |
| GNAS | Missense mutation | p.R844C | |
| RNF43 | Missense mutation | p.M1I | |
| Invasive colloid carcinoma | |||
| TP53 | Missense mutation | p.S241F | |
| TP53 | Missense mutation | p.R248W | |
| GNAS | Missense mutation | p.R844C | |
| RNF43 | Missense mutation | p.M1I |
a
Cases 4 and 5 were also subjected to whole-genome sequencing.
b
Cases 9 and 11 had an associated invasive carcinoma component. The invasive component of case 9 was too small for molecular analysis. Recurrent mutations are written in bold.