Table 1.
Clinicopathological features of the discovery set (21 patients, 29 samples)
| ID | Genotype | Gender | Age at Diagnosis | Site of Primary Tumor | Sample type | Metastatic disease | Therapies prior to sample harvest | |
|---|---|---|---|---|---|---|---|---|
| 1 | 1A | KIT exon 9 insertion AY502–503; exon 13 N655S; exon 17 N822 K | Male | 45 | Small intestine | Metastasis | Y | IM, SU |
| 1B | KIT exon 9 insertion AY502–503; exon 17 N822K | Male | 45 | Small intestine | Metastasis | Y | IM, SU | |
| 1C | KIT exon 9 insertion AY502–503, exon 13 N655S; exon 17 N822K | Male | 45 | Small intestine | Metastasis | Y | IM, SU | |
| 2 | 2A | KIT exon 9 insertion AY502–503; exon 17 D816H | Male | 56 | Small intestine | Metastasis | Y | IM, SU |
| 2B | KIT exon 9 insertion AY502–503; exon 17 D820E | Male | 56 | Small intestine | Metastasis | Y | IM, SU | |
| 3 | 3A | KIT exon 11 deletion W557-V559 | Male | 60 | Small intestine | Metastasis | Y | IM |
| 4 | 4A | KIT exon 11 deletion VQWKV 555–559; exon 13 V654A | Male | 50 | Stomach | Metastasis | Y | IM |
| 5 | 5A | KIT exon 9 insertion AY502–503; exon 17 Y823D | Female | 33 | Small intestine | Metastasis | Y | IM, SU, NI, SO, IM + LBH, DA |
| 5B | KIT exon 9 insertion AY502–503; exon 17 D820E; exon 18 S840 N | Female | 33 | Small intestine | Metastasis | Y | IM, SU, NI, SO, IM + LBH, SO + RAP, DA, DOX + GEM, PA | |
| 6 | 6A | KIT exon 11 deletion D579 | Male | 65 | Small intestine | Metastasis | Y | IM |
| 7 | 7A | KIT exon 11 deletion W557-K558 | Female | 39 | Small intestine | Metastasis | Y | IM |
| 8 | 8A | KIT exon 11 V559D | Male | 65 | Rectum | Primary tumor | Y | IM |
| 9 | 9A | KIT exon 11 deletion K550-K558; KIT exon 17 D820G | Male | 65 | Stomach | Primary tumor | Y | IM |
| 10 | 10A | KIT exon 11 deletion K550–558 (starts intron 10); exon 17 D820Y | Female | 43 | Small intestine | Metastasis | Y | IM, SU, RE |
| 10B | KIT exon 11 deletion K550–558 (starts intron 10); exon 17 D820Y | Female | 43 | Small intestine | Metastasis | Y | IM, SU, RE | |
| 11 | 11A | KIT exon 11 deletion E554-D572; exon 13 V654A | Male | 45 | Small intestine | Metastasis | Y | IM |
| 12 | 12A | KIT exon 11 deletion N567-L576 | Male | 56 | Small intestine | Metastasis | Y | IM |
| 13 | 13A | KIT exon 9 S476I | Male | 40 | Small intestine | Metastasis | Y | IM, SU |
| 14 | 14A | KIT exon 11 deletion G554-V559; Exon 17 N822 K | Male | 28 | Small intestine | Metastasis | Y | IM, SU, NI, SO, DA |
| 14B | KIT exon 11 deletion G554-V559; Exon 17 N822 K | Male | 28 | Small intestine | Metastasis | Y | IM, SU, NI, SO, DA | |
| 14C | KIT exon 11 deletion G554-V559; Exon 17 N822 K | Male | 28 | Small intestine | Metastasis | Y | IM | |
| 15 | 15A | KIT exon 11 deletion Y553-K558; exon 17 N822 K | Male | 42 | Stomach | Metastasis | Y | IM |
| 16 | 16A | KIT exon 11 deletion W557-K558; exon 17 D816G | Male | 45 | Small intestine | Metastasis | Y | IM |
| 16B | KIT exon 11 deletion W557-K558; exon 17 Y823D | Male | 45 | Small intestine | Metastasis | Y | IM | |
| 17 | 17A | KIT exon 11 deletion 551_554PMYE > Q | Male | 65 | Small intestine | Primary tumor | Y | None |
| 18 | 18A | KIT exon 9 insertion AY502–503 | Female | 41 | Small intestine | Primary tumor | Y | None |
| 19 | 19A | KIT exon 11 V559D | Female | 65 | Stomach | Metastasis | Y | None |
| 20 | 20A | KIT exon 13 K642E | Female | 62 | Small intestine | Primary tumor | N | None |
| 21 | 21A | KIT exon 11 deletion W557-K558 | Male | 74 | Stomach | Metastasis | Y | IM |
DA dasatinib, DOX doxorubicin, GEM gemcitabine, IM imatinib, LBH LBH-589, panbinostat, NI nilotinib, PA pazopanib, RAP rapamycin, RE regorafenib, SU sunitinib, SO sorafenib, Y/N (yes/no)