Table 3.
No. | Amplification |
Mutation status |
||||
---|---|---|---|---|---|---|
1st PCR | Nested PCR | Gene | Exon | Codonb, c | Type | |
1 | Failure | 〇 | None | – | – | – |
2 | 〇 | KIT | 11 | V559D | PM | |
3 | 〇 | KIT | 9 | 503AY504 | I | |
4 | 〇 | KIT | 13 | K642E | PM | |
5 | 〇 | PDGFRA | 18 | D842V | PM | |
6 | 〇 | KIT | 11 | 550–558 | D | |
7 | 〇 | KIT | 11 | 555 | D | |
8 | 〇 | KIT | 11 | W557R | PM | |
9 | 〇 | KIT | 11 | 579DPTQLPYD580 | I | |
10 | 〇 | KIT | 11 | W557R | PM | |
11 | 〇 | PDGFRA | 18 | D842V | PM | |
12 | 〇 | KIT | 11 | 580DH581 | I | |
13 | 〇 | KIT | 11 | V560E | PM | |
14 | 〇 | KIT | 11 | 573DP574 | I | |
15 | 〇 | KIT | 11 | 585YDHKWEFP586 | I | |
16 | 〇 | KIT | 11 | V560D | PM | |
17 | 〇 | KIT | 11 | L577P | PM | |
18 | 〇 | KIT | 11 | V561D | PM | |
19 | 〇 | KIT | 11 | L577P | PM | |
20 | 〇 | KIT | 11 | V560D | PM | |
21 | 〇 | KIT | 11 | L576P | PM | |
22 | 〇 | KIT | 11 | 561–562 | D | |
23 | Failure | 〇 | KIT | 11 | 560 | D |
24 | 〇 | KIT | 11 | V559D | PM | |
25 | 〇 | KIT | 11 | 558 | D | |
26 | 〇 | KIT | 11 | 580DPTQLPYDH581 | I | |
27 | 〇 | KIT | 11 | 560 | D | |
28 | Failure | 〇 | None | – | – | – |
29a | Failure | Failure | None | – | – | – |
30 | 〇 | KIT | 11 | V559D | PM | |
31 | 〇 | KIT | 11 | 585LPYDHKWEFP586 | I | |
32 | 〇 | KIT | 11 | 557–558 | D |
Mutation status of No.29 was analyzed using surgical tissue sample because of failure to amplification by FNA sample.
Each letter indicates the amino acid that was inserted or substituted due to the gene mutation (e.g., V559D indicates that valine was substituted for aspartic acid at codon 559 due to a point mutation, and 503AY504 indicates that alanine and tyrosine were inserted between codons 503 and 504).
The numbers in the codon column indicate deleted codons (e.g., 557–558 indicates that codons 557 and 558 were deleted).
Abbreviations. D, deletion; PM, point mutation; I, insertion.