GIST no. | Age at diagnosis (years) | Sex | Site | Morphology | Genotype | NF1 | SDHB IHC | MGMT methylation status | MGMT IHC score | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KIT | PDGFRA | BRAF | KRAS | SDHx | |||||||||
1 | 64 | F | Stomach | Sa | Exon 11 p.E554_K558 (c.1660_1674del15) | WTb | NAc | NA | NA | Nd | NA | Ue | NA |
2 | 86 | F | Stomach | M | Exon 11 p.H580_K581ins9 (c.1740_1741ins27) | WT | NA | NA | NA | N | POSf | U | NA |
3 | 67 | F | Stomach | S | Exon 11 p.W557>G (c. 1669 T>G) | WT | WT | NA | NA | N | POS | U | 3 |
4 | 91 | F | Stomach | S | Exon 11 W557_K558del (c.1669_1674delTGGAAG) | WT | WT | NA | NA | N | POS | U | 3 |
5 | 72 | M | Stomach | S | Exon 11 W557R (c.1669 T>A) | WT | WT | NA | NA | N | POS | U | 2 |
6 | 68 | M | Stomach | S | Exon 11 p.V555_Q556del (c.1663_1668delGTACAG) | WT | NA | NA | NA | N | NA | U | NA |
7 | 63 | F | Stomach | M | Exon 11 p.D579_W582del12 (c.1735_1746del12) | WT | NA | NA | NA | N | NA | U | NA |
8 | 74 | M | Stomach | S | Exon 11 p.N566_Q575del (c.1696_1725del30) | WT | NA | NA | NA | N | NA | U | NA |
9 | 49 | F | Stomach | S | Exon 11 p.V559D (c.1676 T>A) | WT | NA | NA | NA | N | POS | M | 1 |
10 | 39 | F | Ileum | M | Exon 11 p.V560D (c.1679 T>A) | WT | NA | NA | NA | N | NA | U | NA |
11 | 80 | F | Jejunum | S | Exon 11 p.W557_K558del (c.1669_1674delTGGAAG) | WT | NA | NA | NA | N | NA | U | NA |
12 | 51 | M | Ileum | S | Exon 11 p.M552_W557 del (c.1653_1670del18) | WT | NA | NA | NA | N | POS | U | 3 |
13 | 64 | F | Jejunum | S | Exon 9 p.Y503_F504insYA (c.1509_1510insGCCTAT) | WT | NA | NA | NA | N | NA | U | NA |
14 | 67 | F | Stomach | S | Exon 9 p.Y503_F504insYA (c.1509_1510insGCCTAT) | WT | NA | NA | NA | N | NA | U | NA |
15 | 47 | M | Stomach | E | WT | Exon 18 p.D842V (c.2525A>T) | NA | NA | NA | N | NA | U | NA |
16 | 74 | M | Stomach | M | WT | Exon 18 p.D842V (c.2525A>T) | WT | NA | NA | N | NA | U | NA |
17 | 57 | F | Stomach | S | WT | Exon 18 p.D842V (c.2525A>T) | NA | NA | NA | N | POS | U | 2 |
18 | 62 | M | Jejunum | M | WT | Exon 18 p.D842V (c.2525A>T) | WT | NA | NA | N | POS | U | 3 |
19 | 53 | M | Stomach | E | WT | Exon 18 p.I843_D846delIMHD (c.2527_2538del12) | NA | NA | NA | N | NA | U | NA |
20 | 77 | F | Stomach | M | WT | Exon 18 p.D842V (c.2525A>T) | NA | NA | NA | N | NA | U | NA |
21h | 66 | M | Stomach (multifocal) | E | WT | Exon 14 p.P653L (c.1957_1958CC>TT) germline | NA | NA | NA | N | POS | U | 2 |
22i | 67 | M | Jejunum | S | Exon 11 p.Q556_W557delinsR (c.1667_1669delAGT) somatic | Exon 14 p.P653L (c.1957_1958CC>TT) germline | NA | NA | NA | N | NA | U | NA |
23 | 78 | M | Stomach | E | WT | Exon 12 p.V561D (c.1682 T>A) | NA | NA | NA | N | NA | U | NA |
24 | 42 | M | Stomach | E | WT | Exon 12 p.V561D (c.1682 T>A) | NA | NA | NA | N | POS | U | NA |
25 | 68 | M | Stomach | M | WT | WT | WT | WT | NA | N | POS | U | 1 |
26 | 41 | F | Pericolic | M | WT | WT | WT | WT | NA | N | POS | U | 3 |
27 | 61 | F | Jejunum | S | WT | WT | WT | WT | NA | N | POS | U | 3 |
28 | 52 | M | Duodenum-Jejunum | S | WT | WT | WT | WT | NA | N | POS | M | 1 |
29 | 46 | F | Small bowel NOSg | S | WT | WT | WT | WT | NA | Y | POS | U | 2 |
30 | 67 | F | Duodenum | S | WT | WT | WT | WT | NA | N | POS | U | 3 |
31 | 73 | M | Ileum | S | WT | WT | WT | WT | NA | N | POS | M | 1 |
32 | 73 | F | Stomach | S | WT | WT | WT | WT | NA | N | POS | M | 1 |
33 | 48 | M | Stomach | S | WT | WT | WT | WT | NA | Y | POS | M | 3 |
34 | 64 | F | Jejunum | S | WT | WT | WT | WT | NA | Y | POS | U | NA |
35 | Jejunum | S | WT | WT | WT | WT | NA | POS | U | NA | |||
36 | Jejunum | S | WT | WT | WT | WT | NA | POS | U | NA | |||
37 | 57 | M | Duodenum | S | WT | WT | WT | WT | NA | N | POS | U | 3 |
38 | 65 | F | Ileum | S | WT | WT | WT | WT | NA | N | POS | U | 3 |
39 | 34 | M | Stomach | E | WT | WT | WT | WT | NA | N | POS | M | NA |
40 j | 28 | F | Stomach | M | WT | WT | WT | WT | SDHA Exon 9 p.S384X (c.1151C>G) heterozygous germline and homozygous somatic | N | NEG | M | NA |
41 j | 30 | M | Stomach | M | WT | WT | WT | WT | SDHA Exon 2 p.R31X (c.91C>T) heterozygous germline and Exon 13 p.R589W (c.1765C>T) heterozygous somatic | N | NEG | M | NA |
42 | 21 | F | Stomach | S | WT | WT | WT | WT | SDHA Exon5 p.R171H (c.G512G>A) heterozygous germline and homozygous somatic | N | NEG | U | NA |
43 | 60 | F | Stomach (multifocal)k | M | WT | WT | WT | WT | SDHA Exon1 p.R9Q (c.26G>A) heterozygous somatic and Exon 13 p.Q577K (c.1729 C>A) heterozygous somatic | N | NEG | U | 3 |
44 | 48 | F | Stomach | E | WT | WT | WT | WT | SDHA Exon9 p.G419R (c.1255G>A) heterozygous somatic | N | NEG | M | 1 |
45 | 82 | F | Stomach | E | WT | WT | WT | WT | SDHA Exon10 p.R465Q (c.1394G>A) homozygous somatic | N | NEG | M | 3 |
46 | 28 | M | Stomach | E | WT | WT | WT | WT | SDHB Exon6 p.M213R (c.638 T>G) homozygous somatic | N | NEG | M | 1 |
47 | 49 | F | Stomach | E | WT | WT | WT | WT | SDHC Exon4 p.G75D (c. 224G>A) heterozygous somatic | N | NEG | U | 3 |
48 | 27 | F | Stomach | M | WT | WT | WT | WT | SDHA Exon9 p.G419R (c. 1255G>A) heterozygous (germline not tested) | N | NEG | M | NA |