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Table 1 Clinicopathological features of the discovery set (21 patients, 29 samples)

From: Genomic aberrations in cell cycle genes predict progression of KIT-mutant gastrointestinal stromal tumors (GISTs)

  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
  1. 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)