Table 2.
Characteristics of patients with PDGFRA gene mutations
Case no. | Tumor site | Exon | Nucleotide change | Amino acid change |
---|---|---|---|---|
9 | Stomach | 18 | GAC→GTC | Asp→Val (D842V) |
11 | Stomach | 18 | TGT→CGT | Cys→Arg (C814R) |
15 | Stomach | 18 | GAC→GTC | Asp→Val (D842V) |
19 | Stomach | 18 | CCGTG→CG | Arg817del |
25 | Stomach | 18 | GAC→GTC | Asp→Val (D842V) |
29 | Stomach | 18 | AGACATCATGCATG→AG | AspIleMetHis842_845del |
49 | Stomach | 18 | GAC→GTC | Asp→Val (D842V) |
77 | Peritoneum | 18 | CGTGAT→CGTCGAT | ArgAsp→ArgArg817ins |
23 | Stomach | 12 | CCG→CAG | Pro→Gln (P553Q) |
44 | Stomach | 12 | ATT→CTT | Ile→Leu (I562L) |
52 | Stomach | 12 | CTT→GTT | Leu→Val (L595V) |
81 | Small bowel | 12 | AGC→ATC | Ser→Ile (S566I) |
91 | Small bowel | 12 | GAAATT→GACAAT | GluIle→AspAsn556ins |
43 | Stomach | 14 | ACG→AAG | Thr→Lys (T632K) |
61 | Peritoneum | 11 | CTG→CCG | Leu→Pro (L521P) |
46 | Small bowel | 8 | TAT→TCT | Tyr→Ser (Y392S) |