Immunohistostaining Gene analysis
Case No. *GIST markers KIT Exon11 KIT Exon9 PDGFRA Exon18
A B C D E ** Band / Analysis Mutation  Band / Analysis Mutation Band / Analysis Mutation
Retrospective Study
1 + + - - + D/SB KVV Del (558-560) I S/DR WT S/DR S 847 L
2 + + - + + S/DR V 559 D S/DR WT S/DR WT
3 + + - + + S/DR V 559 D S/DR WT S/DR WT
4 + + - + + D/SB QTKVVEEIN Del (556-564) S/DR WT S/DR WT
5 + + - + + S/SB V 560 Del S/DR WT S/DR WT
6 + + - + + S/DR WT S/DR WT S/DR WT
7 + + - + + S/DR WT S/DR WT S/DR D 842 E
8 + + - + + D/SB WK Del (557-558) S/DR WT S/DR WT
9 + + - + + S/DR WT S/DR WT S/DR WT
10 + + + + + S/DR L 576 P S/DR WT S/DR WT
11 + + - + + D/SB  WK Del  (557-558) S/DR WT S/DR WT
12 + + - + + D/SB PTQLPYDHKWEFP Ins (572-585) S/DR WT S/DR WT
13 + + - + + D/SB WKVVE Del (557-561) S/DR WT S/DR WT
14 + + - + + S/DR V 559 A S/DR WT S/DR WT
15 + + - + + D/SB WKV Del ( 557-559) C S/DR WT S/DR WT
16 + + - - + S/DR WT S/DR WT S/DR WT
17 + + - + + D/SB PMYE Del (551-554) S/DR WT S/DR WT
18 + - - - + S/DR WT S/SB AY Ins (503-504) S/DR WT
19 + + - - + S/DR WT S/SB AY Ins (503-504) S/DR WT
20 + + - + + S/DR V 559 G S/DR WT S/DR WT
21 + - - + + S/DR WT S/DR WT S/DR D 842 V
22 + + - + + S/DR V 559 D S/DR WT S/DR WT
23 + + - - + S/DR WT S/DR WT S/DR D 842 V
24 + + - + + S/DR WT S/DR WT S/DR D 842 E
25 + + - - + D/SB MYEVQWKV Del (552-559) S/DR WT S/DR WT
26 + + - + + D/SB  WK Del (557-558) S/DR WT S/DR WT
Prospective study
27 - - - + - D/SB KVV Del (558-560) I S/DR WT S/DR WT
28 + - - - + S/SB KVV Del (558-560) I S/DR WT S/DR WT
- + + - - D/SB Q556H,WKVVEEI Del (557-563) S/DR WT S/DR WT
29 + + - + + S/SB D579 Del (GAT) S/DR WT S/DR WT
30 + + - + + D/SB YEVQWKVVEE Del (553-562) S/DR WT S/DR WT
31 + + - + + S/DR WT S/DR WT S/DR WT
32 + + - + + D/SB  WK Del (557-558) S/DR WT S/DR WT
33 + + - + + S/DR V 559 D S/DR WT S/DR WT
34 + + - + + S/SB L576 Del (CTT) S/DR WT S/DR WT
35 - + - - - S/DR WT S/DR WT S/DR WT
36 + + - + + S/DR WT S/DR WT S/DR WT
37 + + + + + S/DR V 559 D S/DR WT S/DR WT
38 + + - + + D/SB VV Del (559-560) S/DR WT S/DR WT
39 + + - + + S/SB D579 Del (GAT) S/DR WT S/DR WT
40 + + - + + S/SB KVVEEINGNNYVY Del(558-570) S/DR WT S/DR WT
41 + + - + + S/DR V 560 D S/DR WT S/DR WT
42 + + - + + S/SB W557Del, K558R S/DR WT S/DR WT
D: Double band; Del: Deletion; DR: Direct sequencing; Ins: Insertion; S: Single band; SB: Subcloning; WT: Wild Type. Case Nos.1-26 included in retrospective study, 27-42 included in prospective study. *GIST markers include the antibodies c-Kit (A), CD34 (B), desmin (C), PDGFRA (D), and DOG1 (E). **Band means the electrophoretic status of amplicon (single or double). Analysis means the final approach that obtained the gene analysis results.
Table 5: Immunohistochemical and molecular data of 42 patients with GIST.