Case | Diagnostic test | Risk group | Gender | Age | Cyst number* | Tumour location† | Tumour size† (mm) | Mural nodule (EUS) | Pathological grade | GNAS status in juice | GNAS status in resected IPMN | |
Mutation score‡ | Mutation | |||||||||||
1 | Pathology | Sporadic | Male | 74 | 2 | Head | 50 | 21 mm | High | 6 | R201H | |
2 | Pathology | Sporadic | Male | 49 | 2 | Head | 15 | 5 mm | High | 5 | R201C | R201C |
3 | Pathology | Sporadic | Female | 72 | 2 | Body | 16 | Not detected | Intermediate | 5 | R201C, R201H | R201H |
4 | Pathology | Sporadic | Female | 66 | 3 | Head | 10 | Not detected | Intermediate | 5 | R201C | R201C |
5 | Pathology | Sporadic | Male | 64 | 10 | Head | 30 | Not detected | Intermediate | 5 | R201C | |
6 | Pathology | Sporadic | Female | 66 | 8 | Head | 60 | Not detected | Intermediate | 8 | R201H | |
7 | Pathology | Sporadic | Female | 66 | 1 | Head | 6 | Not detected | Intermediate | 2 | R201C, R201H | |
8 | Pathology | Sporadic | Female | 59 | 15 | Tail | 15 | 6 mm | Intermediate | 2 | R201C | R201C |
9 | Pathology | Familial | Female | 72 | 1 | Tail | 6 | Present | Intermediate | 4 | R201C | R201C |
10 | Pathology | Sporadic | Female | 62 | 3 | Body | 15 | Not detected | Intermediate | 0 | WT | WT |
11 | Pathology | PJS | Female | 46 | 1 | Uncinate | 10 | Not detected | Intermediate | 0 | WT | WT |
12 | Pathology | Sporadic | Male | 48 | 1 | Head | 5 | Not detected | Low | 1 | R201C | |
13 | Pathology | Familial | Male | 56 | 1 | Head | 15 | Not detected | Low | 0 | WT | WT |
14 | Pathology | BRCA2§ | Female | 60 | 1 | Tail | 6 | Not detected | Low | 0 | WT | |
15 | Imaging | Sporadic | Male | 76 | 12 | Body | 18 | Not detected | 6 | R201C | ||
16 | Imaging | Sporadic | Male | 74 | 1 | Head | 15 | Not detected | 5 | R201C | ||
17 | Imaging | Sporadic | Female | 86 | 1 | Uncinate | 12 | Not detected | 4 | R201C | ||
18 | Imaging | Sporadic | Female | 64 | 3 | Body | 12 | Not detected | 3 | R201C | ||
19 | Imaging | Sporadic | Male | 57 | 3 | Body | 16 | Present 5 mm | 2 | R201C | ||
20 | Imaging | Sporadic | Female | 71 | 2 | Uncinate | 6 | Not detected | 2 | R201C | ||
21 | Imaging | Sporadic | Male | 60 | 2 | Head | 16 | Not detected | 5 | R201C, R201H | ||
22 | Imaging | Sporadic | Female | 53 | 2 | Body | 6.4 | Not detected | 4 | R201C, R201H | ||
23 | Imaging | Sporadic | Male | 75 | 3 | Head | 23 | Not detected | 7 | R201H | ||
24 | Imaging | Sporadic | Female | 63 | 3 | Body | 19 | Not detected | 4 | R201H | ||
25 | Imaging | Familial | Male | 67 | 3 | Tail | 9 | Not detected | 8 | R201C | ||
26 | Imaging | Familial | Female | 59 | 5 | Tail | 12.7 | Not detected | 7 | R201C | ||
27 | Imaging | Familial | Female | 46 | 1 | Head | 9 | Not detected | 7 | R201C | ||
28 | Imaging | Familial | Female | 64 | 4 | Head | 5.2 | Not detected | 5 | R201C | ||
29 | Imaging | Familial | Female | 44 | 2 | Tail | 11 | Not detected | 4 | R201C | ||
30 | Imaging | Familial | Male | 58 | 1 | Body | 5 | Not detected | 4 | R201C | ||
31 | Imaging | Familial | Male | 66 | 6 | Body | 8.5 | Not detected | 3 | R201C | ||
32 | Imaging | Familial | Female | 60 | 2 | Head | 8 | Not detected | 3 | R201C | ||
33 | Imaging | Familial | Female | 58 | 15 | Tail | 8 | Not detected | 2 | R201C | ||
34 | Imaging | Familial | Female | 52 | 1 | Body | 5.4 | Not detected | 2 | R201C | ||
35 | Imaging | Familial | Male | 62 | 4 | Tail | 7 | Not detected | 2 | R201C | ||
36 | Imaging | Familial | Female | 62 | 9 | Tail | 6 | Not detected | 1 | R201C | ||
37 | Imaging | Familial | Female | 46 | 4 | Body | 8 | Not detected | 1 | R201C | ||
38 | Imaging | Familial | Female | 59 | 2 | Tail | 9 | Not detected | 1 | R201C | ||
39 | Imaging | Familial | Male | 61 | 5 | Tail | 7 | Not detected | 1 | R201C | ||
40 | Imaging | Familial | Male | 67 | 2 | Body | 5 | Not detected | 6 | R201G | ||
41 | Imaging | Familial | Male | 63 | 15 | Body | 16 | Present | 13 | R201H | ||
42 | Imaging | Familial | Male | 56 | 2 | Body | 14 | Not detected | 11 | R201H | ||
43 | Imaging | Familial | Female | 79 | 4 | Tail | 15 | Not detected | 9 | R201H | ||
44 | Imaging | Familial | Male | 53 | 2 | Body | 12 | Not detected | 8 | R201H | ||
45 | Imaging | Familial | Male | 63 | 6 | Tail | 18 | Not detected | 6 | R201H | ||
46 | Imaging | Familial | Male | 70 | 8 | Head | 5 | Not detected | 6 | R201H | ||
47 | Imaging | Familial | Male | 71 | 2 | Body | 8 | Not detected | 5 | R201H | ||
48 | Imaging | Familial | Male | 70 | 7 | Tail | 5 | Not detected | 4 | R201H | ||
49 | Imaging | Familial | Female | 57 | 6 | Body | 8 | Not detected | 4 | R201H | ||
50 | Imaging | Familial | Male | 54 | 2 | Body | 7 | Not detected | 4 | R201H | ||
51 | Imaging | Familial | Male | 61 | 2 | Body | 5 | Not detected | 2 | R201H | ||
52 | Imaging | Familial | Female | 56 | 4 | Body | 5 | Not detected | 1 | R201H | ||
53 | Imaging | Familial | Female | 46 | 3 | Body | 6.3 | Not detected | 2 | R201S | ||
54 | Imaging | Sporadic | Male | 59 | 1 | Head | 13 | Not detected | 0 | WT | ||
55 | Imaging | Sporadic | Female | 75 | 2 | Body | 19 | Present 3 mm | 0 | WT | ||
56 | Imaging | Sporadic | Female | 49 | 1 | Tail | 21 | Not detected | 0 | WT | ||
57 | Imaging | Sporadic | Male | 76 | 1 | Head | 28 | Not detected | 0 | WT | ||
58 | Imaging | Sporadic | Male | 65 | 4 | Head | 16 | Not detected | 0 | WT | ||
59 | Imaging | Familial | Female | 55 | 1 | Uncinate | 12 | Not detected | 0 | WT | ||
60 | Imaging | Familial | Male | 58 | 8 | Head | 11 | Not detected | 0 | WT | ||
61 | Imaging | Familial | Male | 50 | 10 | Tail | 11 | Not detected | 0 | WT | ||
62 | Imaging | Familial | Female | 75 | 6 | Tail | 21 | Present | 0 | WT | ||
63 | Imaging | Familial | Male | 63 | 8 | Tail | 18 | Not detected | 0 | WT | ||
64 | Imaging | Familial | Male | 63 | 2 | Head | 28 | Not detected | 0 | WT | ||
65 | Imaging | Familial | Male | 58 | 1 | Head | 5 | Not detected | 0 | WT | ||
66 | Imaging | Familial | Female | 61 | 4 | Tail | 6 | Not detected | 0 | WT | ||
67 | Imaging | Familial | Female | 51 | 4 | Tail | 6 | Not detected | 0 | WT | ||
68 | Imaging | Familial | Male | 74 | 2 | Uncinate | 6 | Not detected | 0 | WT | ||
69 | Imaging | Familial | Female | 75 | 4 | Tail | 6 | Not detected | 0 | WT | ||
70 | Imaging | Familial | Female | 50 | 1 | Tail | 6.7 | Not detected | 0 | WT | ||
71 | Imaging | Familial | Female | 53 | 4 | Body | 5 | Not detected | 0 | WT | ||
72 | Imaging | Familial | Male | 44 | 1 | Head | 8 | Not detected | 0 | WT | ||
73 | Imaging | Familial | Male | 57 | 3 | Body | 5 | Not detected | 0 | WT | ||
74 | Imaging | Familial | Female | 53 | 4 | Body | 6.4 | Not detected | 0 | WT | ||
75 | Imaging | Familial | Female | 55 | 2 | Tail | 6 | Not detected | 0 | WT | ||
76 | Imaging | Familial | Male | 61 | 1 | Body | 5.8 | Not detected | 0 | WT | ||
77 | Imaging | BRCA1§ | Female | 55 | 3 | Body | 8 | Not detected | 0 | WT | ||
78 | Imaging | BRCA2§ | Male | 52 | 8 | Body | 5 | Not detected | 0 | WT |
↵* Cysts seen by EUS.
↵† Tumour location and size of the largest cyst.
↵‡ Mutation score =total number of positive wells with confirmed GNAS mutations by pyrosequencing.
↵§ Germline mutation carrier.
EUS, endoscopic ultrasonography; HRM, high-resolution melt-curve analysis; IPMN, intraductal papillary mucinous neoplasm; PJS, Peutz–Jeghers syndrome; WT, wild-type.