Table 3. GNAS and KRAS mutations in mucinous tumours of diverse organs.
|
|
GNAS | KRAS | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Site | Histology | N | Total mutated | n | Nucleotide | Amino acid | Total mutated | n | Nucleotide | Amino acid |
Appendix |
Low-grade appendiceal mucinous neoplasm |
32 |
16 (50%) |
1 |
c.601C>A |
p.R201S |
30 (94%) |
1 |
c.34G>T |
p.G12C |
|
|
|
|
6 |
c.601C>T |
p.R201C |
|
13 |
c.35G>A |
p.G12D |
|
|
|
|
7 |
c.602G>A |
p.R201H |
|
1 |
c.35G>C |
p.G12A |
|
|
|
|
2 |
c.601C>T, c.602G>A |
p.R201C, p.R201H |
|
11 |
c.35G>T |
p.G12V |
|
|
|
|
|
|
|
|
4 |
c.38G>A |
p.G13D |
|
Mucinous adenocarcinoma |
3 |
0 |
|
|
|
3 (100%) |
1 |
c.34G>A |
p.G12S |
|
|
|
|
|
|
|
|
2 |
c.35G>A |
p.G12D |
Colorectum |
Mucinous adenocarcinoma |
33 |
3 (9%) |
1 |
c.601C>T |
p.R201C |
9 (27%) |
4 |
c.35G>A |
p.G12D |
|
|
|
|
2 |
c.602G>A |
p.R201H |
|
4 |
c.35G>T |
p.G12V |
|
|
|
|
|
|
|
|
1 |
c.38G>A |
p.G13D |
Ovary |
Mucinous cystadenoma |
23 |
2 (9%) |
1 |
c.602G>A |
p.R201H |
7 (30%) |
2 |
c.35G>A |
p.G12D |
|
|
|
|
1 |
c.601C>T, c.602G>A |
p.R201C, p.R201H |
|
5 |
c.35G>T |
p.G12V |
|
Mucinous borderline tumour |
24 |
0 |
|
|
|
21 (88%) |
1 |
c.34G>C |
p.G12R |
|
|
|
|
|
|
|
|
11 |
c.35G>A |
p.G12D |
|
|
|
|
|
|
|
|
8 |
c.35G>T |
p.G12V |
|
|
|
|
|
|
|
|
1 |
c.37G>T |
p.G13C |
|
Mucinous cystadenocarcinoma |
15 |
0 |
|
|
|
8 (53%) |
1 |
c.34G>C |
p.G12R |
|
|
|
|
|
|
|
|
2 |
c.35G>A |
p.G12D |
|
|
|
|
|
|
|
|
5 |
c.35G>T |
p.G12V |
Pancreas |
Intraductal papillary mucinous neoplasm |
37 |
30 (81%) |
1 |
c.601C>A |
p.R201S |
25 (68%) |
1 |
c.34G>A |
p.G12S |
|
|
|
|
15 |
c.601C>T |
p.R201C |
|
3 |
c.34G>C |
p.G12R |
|
|
|
|
12 |
c.602G>A |
p.R201H |
|
7 |
c.35G>A |
p.G12D |
|
|
|
|
2 |
c.601C>T, c.602G>A |
p.R201C, p.R201H |
|
13 |
c.35G>T |
p.G12V |
|
|
|
|
|
|
|
|
1 |
c.38G>A |
p.G13D |
Lung |
Mucinous adenocarcinomaa |
18 |
0 |
|
|
|
14 (78%) |
2 |
c.34G>T |
p.G12C |
|
|
|
|
|
|
|
|
7 |
c.35G>A |
p.G12D |
|
|
|
|
|
|
|
|
5 |
c.35G>T |
p.G12V |
Breast | Mucinous adenocarcinoma | 36 | 0 | 0 |
N, total number of examined lesions; n, lesions with each mutation.
Formerly mucinous-bronchioloalveolar carcinoma.