Massively parallel sequencing fails to detect minor resistant subclones in tissue samples prior to tyrosine kinase inhibitor therapy

Heydt, Carina; Kumm, Niklas; Fassunke, Jana; Künstlinger, Helen; Ihle, Michaela Angelika; Scheel, Andreas; Schildhaus, Hans-Ulrich; Haller, Florian; Büttner, Reinhard; Odenthal, Margarete; Wardelmann, Eva; Merkelbach-Bruse, Sabine

doi:10.1186/s12885-015-1311-0

Table 1 Clinical and pathological data and mutational status of 33 primary GISTs with known recurrent lesions

From: Massively parallel sequencing fails to detect minor resistant subclones in tissue samples prior to tyrosine kinase inhibitor therapy

Primary tumour										Recurrent lesion
Case No.	CD 117	CD 34	BCL2	DOG1	Tumour cell type	Sex	Age	Localisation	Primary mutation	Case No.	Secondary mutation
1	+	+	+	NA	Spindle	M	80	EGIST	11: p.W557_V559delinsF	1 a	13: p.V654A
2	+	+	-	NA	Spindle	F	59	Small intestine	11: p.W557_E561del	2 a	13: p.V654A
										2 b	17: Y823D
										2 c	13: p.V654A
3	+	(+)	(+)	NA	Mixed	M	45	Stomach	11: p.K550_V555delinsL	3 a	17: p.D820Y
4	+	+	+	NA	Spindle	F	44	Peritoneum	11: p.W557_V560delinsC	4 a	13: p.V654A
										4 b	13: p.V654A
										4 b	17: p.D820E
5	+	+	+	NA	Epitheloid	F	66	Peritoneum	11: p.V559A	5 a	13: p.V654A
6	+	+	+	NA	Spindle	F	28	Small intestine	11: N567_L576delinsI	6 a	17: p.D820G
7	+	(+)	(+)	NA	Spindle	M	66	Peritoneum	11: p.Q556_W557del	7 a	13: p.V654A
8	+	+	+	+	Spindle	F	41	Stomach	11: p.[V560G(;)N566D]	8 a	13: p.V654A
9	+	+	+	+	Mixed	M	44	Stomach	11: p.K550_K558del	9 a	14: p.T670I
10	+	NA	NA	+	Spindle	M	67	NA	11: p.V559G	10 a	17: p.D820Y
11	+	+	+	+	Spindle	F	65	Stomach	11: p.V559D	11 a	17: p.N822Y
11	+	+	+	+	Spindle	F	65	Stomach	11: p.V559D	11 b	17: p.D820E
12	+	+		+	Spindle	M	63	Stomach	11: p.W557_K558del	12 a	13: p.V654A
13	+	-	+	+	Spindle	F	71	Small intestine	11: p.V559G	13 a	11: p.[V559G;Y578C]; [V559G;D579del]
										13 a	13: p.V654A
										13 b	11: p.[V559G]; [V559G;Y578C]
											13: p.V654A
											14: p.N680K
14	+	+	NA	NA	Mixed	F	43	Small intestine	11: p.N567_Y578delinsSCV	14 a	17: p.N822K
15	+	-	-	NA	Mixed	F	59	EGIST	11: p.D579_H580insQQLPYD	15 a	17: p.D820E
16	+	+	+	+	Mixed	M	50	Small intestine	9: p.A502_Y503dup	16 a	17: p.N822Y
17	+	-	-	+	Epitheloid	F	71	Small intestine	11: p.I563_P573del	17 a	17: p.K818_D820delinsN
18	+	+	+	+	Spindle	F	52	Stomach	11: p.K558_V560del	18 a	17: p.D820Y
19	+	+	-	+	Spindle	M	65	Stomach	11: p.W557_V560delinsC	19 a	17: p.Y823D
20	+	+	-	+	Spindle	M	42	NA	11: p.M552_V559del	20 a	14: p.T670E
21	+	+	+	+	Spindle	F	59	Stomach	11: p.W557_V559delinsC	21 a	13: p.V654A
22	+	+	-	+	Spindle	M	46	Rectum	11: p.K558_V560delinsS	22 a	13: p.V654A
23	+	+	+	+	Mixed	M	53	Stomach	11: p.V559G	23 a	13: p.V654A
24	+	+	+	+	Spindle	M	60	Stomach	11: p.W557_V559delinsF	24 a	17: p.N822K
25	+	+	(+)	NA	Mixed	M	65	Stomach	11: c.1648-5_1672del	25 a	-
26	+	-	+	NA	Epitheloid	F	75	EGIST	11: p.Y570_L576del	26 a	-
27	+	-	+	NA	Mixed	M	72	Small intestine	9: p.A502_Y503dup	27 a	-
28	+	+	-	NA	Spindle	F	42	NA	9: p.A502_Y503dup	28 a	n.n.
29	+	+	+	NA	Mixed	M	66	EGIST	11: p.M552_K558del	29 a	-
30	+	+	+	NA	Spindle	F	43	Peritoneum	11: p.W557R	30 a	13: p.K642E
30	+	+	+	NA	Spindle	F	43	Peritoneum	11: p.W557R	30 a	13: p.V654A
31	+	-	+	+	Epitheloid	F	64	Peritoneum	11: p.W557G	31 a	13: p.V654A
											11: p.[W557G(;) V569_Y578del]
											17: p.N822Y
32	+	+	+	+	Spindle	F	77	Stomach	11: p.W557R	32 a	17: p.N822K
33	+	+	+	+	Mixed	M	68	Small intestine	11: p.I563_P577delinsN	33 a	17: p.D820G

NA: Not known. +: Positive staining; (+): Focal positive staining. M: Male; W: Female. n.n.: Not evaluable. EGIST: Extragastrointestinal stromal tumour; a, b, c: Count of recurrent lesions of one case.

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