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

Heinrich, Michael C.; Patterson, Janice; Beadling, Carol; Wang, Yuexiang; Debiec-Rychter, Maria; Dewaele, Barbara; Corless, Christopher L.; Duensing, Anette; Raut, Chandrajit P.; Rubin, Brian; Ordog, Tamas; van de Rijn, Matt; Call, Jerry; Mühlenberg, Thomas; Fletcher, Jonathan A.; Bauer, Sebastian

doi:10.1186/s13569-019-0112-7

Clinical Sarcoma Research

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

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)

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ISSN: 2045-3329

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