Table 1.

Clinical and molecular findings and large-scale genomic copy number changes detected by Affymetrix GeneChip 50K Xba array.

No.	Age/Sex	Site	Risk	Typeb	Genotypec	Copy number losses	Copy number gains
1	66/F	sm. int.	low	M	KIT exon 11: p.M552_Y553del	1p; 6; 14q; 15cen-q21.1; 20q13.12-q13.2
2	70/F	stomach	high	Sp	KIT exon 11:p.V559G	3q; 14q
3	77/M	stomach	n/aa	n/aa	KIT exon 11:p.V560D	6q; 9p; 10p; 13q; 14q; 15q; 21q; 22q	5; 12; 16p; 19pd; 20
4	63/M	rectum	inter.	Sp	KIT exon 11:p.W557F, p.K558_V559del	1p; 2p; 4q22.1-pter; 9p21.1-pter, 9cen-q31.2; 13q; 14q; 22q	4q22.1-qter; 9cen -p21.1; 9q31.2-q31.3; 12; 16p; 18
5	37/M	omentum	high	Ep	KIT exon 11: p.K550_W557delinsIL	1p; 3p21.1-24.2; 9; 10; 14q; 15q; 17p11.2-pter; 22q	20q
6	56/F	stomach	low	Sp	KIT exon 11:p.V560D	3;14q
7	71M	colon	high	Sp	KIT exon 11: p.N567_L576delinsKE	1p; 5p; 9p; 15q; 22q
8	60/F	stomach	high	Sp	KIT exon 11: p.Q556_W557del, p.K558N	1p34.3-pter; 3; 4; 7p; 9; 10; 14q; 15cen-q26.1; 19ql3.12-ql3.41;22q	1q; 5; 8; 17p31.1-qter; 18; 19p; 20q; 21q
9	36/F	stomach	high	M	KIT exon 11:p.D579del	1p34.2-p34.3, 1p33-p34.1, 1p32.1-p32.3, 1p22.1-p31.1, 1q32.2-q32.3, 1q41-qter; 3; 9cen-q31.3; 10; 14cen-q12, 14q21.1-qter; 15q; 22q
10	43/M	abd. wall	high	Sp	KIT exon 9: p. N512_N513insAY	1p; 13q; 15q; 18; 22q
11	47/M	sm. int.	low	Sp	KIT exon 13:p.K642E	1p; 2p25.1-pter, 2p24.3-p25.1, 2p23.2-p22.3, 2q32.3-q36.1, 2q36.1-qter; 14q; 15q	7
12	63/M	sm. int.	low	Sp	KIT exon 13:p.K642E	1p; 6; 14q; 15q	7
13	81/F	stomach	high	M	KIT exon 17:p.Y823D	3; 9p22.2-pter, 9p13.2-p13.3, 9q21.1-q34.13; 14q; 15q; 22q
14	71/M	stomach	high	Ep	PDGFRA exon 14: p.N659Y; exon 18: p.Y849C	12p; 13q; 14q	8q
15	33/F	stomach	inter.	M	none identified		1q
16	53/M	stomach	low	Ep	none identified
17	48/M	rectum	high	Sp	none identified

^anot available.

^bSp, spindle; Ep, epithelial; M, mixed.

^cNomenclature conforms to guidelines from the Human Genetic Variation Society (http://www.hgvs.org/mutnomen).

^dCN gain > 3