Table 1 Clinical and molecular data of the patients included in the study
ID | Sex | Age | DMD | Start | End | Site | Disease status | KIT/PDGFRA Mutational status |
|---|---|---|---|---|---|---|---|---|
GIST_18 | M | NA | loss | ex2 | ex7 | NA | NA | KIT exon 11 V559G |
GIST_20 | M | 38 | loss | ex2 | Small intestine | Metastatic | KIT exon 11 del MYEQW552–557 Z; | |
ex8 | ex17 | KIT exon 18 A829P | ||||||
GIST_22 | F | 76 | loss | ex1 | ex44 | Stomach | NA | PDGFRA exon 18 D842V |
GIST_25 | M | 84 | loss | ex1 | ex17 | NA | NA | KIT exon 11 del WKV557–559 F |
GIST_26 | M | 49 | loss | ex1 | ex11 | Stomach | Metastatic | PDGFRA exon 12 V561D |
GIST_27 | M | 52 | loss | ex1 | NA | NA | KIT exon 11 del KV558-559 N | |
GIST_131 | M | 58 | loss | ex3 | ex7 | Small intestine | Metastatic | KIT exon 11 del V569_Y578 |
GIST_174 | M | 59 | loss | ex1 | ex7 | Stomach | Metastatic | KIT exon 11 L576P |
GIST_188 | F | 57 | loss | All chromosome | Small intestine | Metastatic | KIT exon 11 N564_L576del; KIT exon 17 p.N822K | |
GIST_02 | F | 85 | wt | - | - | Stomach | Localized | KIT exon 11 V560D |
GIST_04 | M | 79 | wt | - | - | Stomach | Localized | KIT exon 9 ins AY502–503 |
GIST_05 | M | 68 | wt | - | - | Stomach | Localized | PDGFRA exon 12 ins/del SPDGHE566–571RIQ |
GIST_08 | M | 62 | wt | - | - | Stomach | Localized | KIT exon 11 V559D |
GIST_09 | M | 54 | wt | - | - | Stomach | Localized | KIT exon 11 ins TQLPYDHKWEFP574–585 at P585 |
GIST_11 | M | 65 | wt | - | - | Stomach | Localized | KIT exon 11 del WK557–558 |
GIST_12 | F | 66 | wt | - | - | Stomach | Localized | PDGFRA exon 14 K646E |
GIST_13 | M | 46 | wt | - | - | Small intestine | Localized | KIT exon 11 V559D |
GIST_14 | M | 56 | wt | - | - | Stomach | Metastatic | KIT exon 11 hom. del WK557–558 |
GIST_15 | F | 64 | wt | - | - | Stomach | Localized | PDGFRA exon 18 del DIMH842-845 |
GIST_16 | F | 62 | wt | - | - | Stomach | Localized | KIT exon 11 L576P |
GIST_121 | M | 72 | wt | - | - | Stomach | Localized | KIT exon 11 V559D |
GIST_124 | M | 72 | wt | - | - | Stomach | Localized | KIT exon 11 ins 1765–1766 |
GIST_125 | F | 49 | wt | - | - | Stomach | Localized | KIT exon 11 W557R |
GIST_129 | M | 60 | wt | - | - | Stomach | Localized | KIT exon 11 del/ins Y553–V559L |
GIST_130 | F | 79 | wt | - | - | Stomach | Localized | KIT exon 9 ins A502_Y503 |
GIST_134 | F | 65 | wt | - | - | Stomach | Localized | KIT exon 11 homoz. V559D |
GIST_135 | F | 60 | wt | - | - | Stomach | Localized | KIT exon 11 del W557_E561 |
GIST_136 | M | 76 | wt | - | - | Stomach | Localized | PDGFRA exon 18 D842V |
GIST_150 | F | 56 | wt | - | - | Stomach | Metastatic | KIT exon 11 P551_E554del |
GIST_07 | F | 27 | wt | - | - | Stomach | Metastatic | KIT/PDGFRA wild-type (SDH deficient) |
GIST_10 | M | 29 | wt | - | - | Stomach | Metastatic | KIT/PDGFRA wild-type (SDH deficient) |
GIST_21 | F | 25 | wt | - | - | Stomach | NA | KIT/PDGFRA wild-type (SDH deficient) |
GIST_24 | F | 18 | wt | - | - | Stomach | Metastatic | KIT/PDGFRA wild-type (SDH deficient) |
GIST_127 | F | 63 | wt | - | - | Ileum | Localized | Quadruple wild-type (KIT/PDGFRA/SDH/BRAF-KRAS-NF1 wild-type). |
GIST_133 | M | 57 | wt | - | - | Duodenum | Localized | Quadruple wild-type (KIT/PDGFRA/SDH/BRAF-KRAS-NF1 wild-type). |