Mapping actionable pathways and mutations in brain tumours using targeted RNA next generation sequencing

Lenting, Krissie; van den Heuvel, Corina N. A. M.; van Ewijk, Anne; ElMelik, Duaa; de Boer, Remco; Tindall, Elizabeth; Wei, Ge; Kusters, Benno; te Dorsthorst, Maarten; ter Laan, Mark; Huynen, Martijn A.; Leenders, William P.

doi:10.1186/s40478-019-0826-z

Acta Neuropathologica Communications

Table 1 Summary of characteristics of glioma samples

From: Mapping actionable pathways and mutations in brain tumours using targeted RNA next generation sequencing

Sample	Sex	Age (at sugery)	Histological type	Grade	Mutation status	% tumor cells
TRAINING COHORT
13-01	F	28	Ependymoma	2	IDHwt	*
13-02	M	40	Astrocytoma	3	IDH1-R132H	70
13-03	M	58	Oligodendroglioma	3	IDH1-R132H	70
13-04	V	62	Glioblastoma	4	IDHwt	60
13-05	M	56	Metastasis	**	IDHwt	*
13-06	M	53	Oligodendroglioma	3	IDH2-R172K	60
13-07	F	20	Variant glioma	2	IDHwt	*
13-08	M	67	Glioblastoma	4	IDHwt	70
13-09	V	58	Glioblastoma	4	IDHwt	70
13-10	M	45	Oligodendroglioma	3	IDH1-R132H	65
13-11	V	67	Glioblastoma	4	IDHwt	70
13-13	M	52	Glioblastoma	4	IDH1-V178I	70
13-14	F	64	Glioblastoma	4	IDHwt	70
13-15	V	44	Oligodendroglioma	3	IDH1-R132H	50
13-16	M	60	Glioblastoma	4	IDHwt	70
13-17	M	45	Oligodendroglioma	2	IDH1-R132H	50
13-18	V	49	Oligodendroglioma	3	IDH1-R132H	50
14-01	V	52	Glioblastoma	4	IDHwt	80
14-02	M	43	Oligodendroglioma	2	IDH1-R132H	50
14-03	V	62	Glioblastoma	4	IDHwt	70
14-04	M	72	Glioblastoma	4	IDHwt	60
14-05	M	21	Astrocytoma	2	IDH1-R132H	70
14-06	M	43	Oligodendroglioma	3	IDH1-R132H	50
14-07	M	65	Oligodendroglioma	3	IDH1-R132H	50
14-08	M	50	Astrocytoma	3	IDH1-R132H	50
14-09	V	43	Astrocytoma	3	IDH1-R132H	60
14-10	V	45	Glioblastoma	4	IDH1-R132H	50
14-11	M	50	Glioblastoma	4	IDHwt	60
14-12	M	59	Oligodendroglioma	3	IDH1-R132H	50
14-13	M	39	Pleomorphous xanthoastrocytoma	3	IDHwt, BRAF-V600E	70
15-01	M	66	Glioblastoma	4	IDHwt	50
15-02	V	61	Glioblastoma	4	IDHwt	70
15-03	V	76	Glioblastoma	4	IDHwt	40
15-04	V	59	Glioblastoma	4	IDHwt	40
15-05	M	31	Astrocytoma	3	IDH1-R132H	70
15-06	V	49	Astrocytoma	3	IDH1-R132H/V178I	70
15-07	M	63	Glioblastoma	4	IDH1-V178I	65
15-08	M	55	Astrocytoma	2	IDH1_R132H	60
15-09	M	70	Glioblastoma	4	IDHwt	70
15-10	V	68	Oligodendroglioma	3	IDH1-R132H	70
15-11	M	33	LPD	**	IDHwt	*
15-12	M	46	Glioblastoma	4	IDHwt	70
15-13	V	78	Glioblastoma	4	IDHwt	80
15-14	M	79	Glioblastoma	4	IDHwt	70
15-15	V	58	Glioblastoma	4	IDHwt	70
15-16	M	25	Astrocytoma	2	IDH1-R132H/V178I	50
15-17	M	68	Glioblastoma	4	IDHwt	60
15-18	V	64	Glioblastoma	4	IDHwt	70
16-01	M	61	Glioblastoma	4	IDHwt	70
16-02	M	47	Glioblastoma	4	IDHwt	70
16-03	V	46	Astrocytoma	3	IDH1-R132H	25
16-04	M	59	Oligodendroglioma	3	IDH1-R132H	60
16-05	M	51	Glioblastoma	4	IDHwt	50
16-06	V	*	Astrocytoma	*	IDH1-R132H	50
16-07	M	74	Glioblastoma	4	IDH1-Y183C	60
16-08	F	68	Glioblastoma	4	IDHwt	50
16-09	V	49	Glioblastoma	4	IDHwt	70
16-10	M	*	Astrocytoma	*	IDH1-R132H	60
16-11	M	67	Glioblastoma	4	IDHwt	50
16-12	M	23	Astrocytoma	3	IDH1-R132H	60
16-13	M	60	Glioblastoma	4	IDHwt	70
16-14	V	60	Oligodendroglioma	3	IDH2-R172M	70
16-15	V	61	Oligodendroglioma	3	IDH1-R132H	70
16-16	M	58	Glioblastoma	4	IDH1-V178I	40
16-17	V	18	Oligodendroglioma	2	IDH2-R172K	40
16-18	*	30	Oligodendroglioma	3	IDH2-R172W	70
16-19	M	48	Glioblastoma	4	IDHwt	70
17-01	M	58	Oligodendroglioma	2	IDH1-R132H	50
17-02	M	40	Astrocytoma	3	IDH1-R132H/V178I	70
17-03	V	76	Glioblastoma	4	IDHwt	65
17-04	M	42	Oligodendroglioma	3	IDH1-R132H	70
17-05	M	59	Glioblastoma	4	IDHwt	70
17-06	M	65	Glioblastoma	4	IDHwt	70
17-07	M	63	Glioblastoma	4	IDHwt	70
17-08	F	26	DNET	1	IDHwt	*
VALIDATION COHORT
17-09	F	67	Glioblastoma	4	IDHwt	*
17-10	F	67	Astrocytoma	2	IDH1-R132H	*
17-11	M	67		4	IDHwt	*
17-12	*	*			IDH1-V178I	*
17-13	F	59	Glioblastoma	4	IDHwt	75
17-14	M	46	Oligodendroglioma	2	IDH1-R132H	*
17-16	M	56	Astrocytoma	3	IDH1-R132H	*
18-01	F	48	oligodendroglioma	2	IDH1-R132H	60
18-02A	F	39	Astrocytoma	2	IDHwt	*
18-02B	F	44	Astrocytoma	2	IDHwt	*
18-04	M	65	Glioblastoma	4	IDHwt	65
18-05	M	19	Astrocytoma	3	IDHwt	45
18-06	M	48	Glioblastoma	4	IDHwt	70
18-07	M	76	Glioblastoma	4	IDHwt	*
18-08	M	69	unknown		IDHwt	45
18-09	M	39	Astrocytoma	3	IDH1-R132H	80
18-10	M	53	Glioblastoma	4	IDHwt	80
18-12	M	51	oligodendroglioma	2	IDH1-R132H	few
18-13	M	42	Pleomorphous xanthoastrocyoma	3	BRAF-V600E	*
18-14	M	53	Other		IDHwt	40
18-15	M	67	Glioblastoma	4	IDHwt	65
18-16	M	76	Glioblastoma	4	n.d.	70
18-17	F	45	Oligodendroglioma	2	IDH1-R132H	70
18-18	F	72	Glioblastoma	4	n.d.	75
18-19	M	55	Glioblastoma	4		80
18-20	F	54	Glioblastoma	4	IDH1-V178I	80
18-21	M	53	Other	4	IDHwt	75
18-23						80

Histological type, WHO grade, and percentage tumor cells were confirmed by a trained neuropathologist (B.K.). IDH-mutational status was derived from the t/RNA-seq data. All IDH1-R132H/IDH2 mutations were validated by routine diagnostic genetic analysis with the ‘Radboud Cancer Hotspot Gene panel’.
Abbreviations: DNET Dysembryoplastic neuroepithelial tumor, F Female, IDH Isocitrate dehydrogenase, LPD Lymphoproliferative disorder, M Male, IDHWT Wild-type, WHO World Health Organization. * data not available; ** non-glioma, no WHO-grade

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ISSN: 2051-5960

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