Adamantinomatous and papillary craniopharyngiomas are characterized by distinct epigenomic as well as mutational and transcriptomic profiles

Hölsken, Annett; Sill, Martin; Merkle, Jessica; Schweizer, Leonille; Buchfelder, Michael; Flitsch, Jörg; Fahlbusch, Rudolf; Metzler, Markus; Kool, Marcel; Pfister, Stefan M.; von Deimling, Andreas; Capper, David; Jones, David T. W.; Buslei, Rolf

doi:10.1186/s40478-016-0287-6

Table 1 Summary of mutational and immunohistochemical analyses

From: Adamantinomatous and papillary craniopharyngiomas are characterized by distinct epigenomic as well as mutational and transcriptomic profiles

Case	Age	Sex	Mutational analysis			Immunohistochemistry
Case	Age	Sex	CTNNB1 exon 3	BRAF exon 15	BRAF Pyro	VE1	nuclear β-catenin
pap1	37	f	wt	V600E	V600E	+	neg
pap2	52	m	wt	V600E	-	-	neg
pap3	19	m	wt	V600E	-	-	neg
pap4^d,e	49	f	wt	V600E	V600E	++	neg
pap5	43	f	wt	V600E	-	-	neg
pap6	57	f	wt	V600E	-	-	neg
pap7^d,e	42	m	wt	V600E	V600E	++	neg
pap8^d	46	f	wt	V600E	-	-	neg
pap9^d,e	58	m	wt	V600E	V600E	++	neg
pap10	40	m	wt	V600E	V600E	+	neg
pap11^b,d,e	38	m	wt	V600E	-	-	neg
pap12	57	m	wt	V600E	-	-	neg
pap13^d,e	39	m	wt	V600E	V600E	++	neg
pap14	61	f	wt	V600E	-	-	-
pap15	56	f	wt	V600E	-	-	neg
pap16^d,e	45	m	wt	V600E	-	-	neg
pap17	62	f	wt	V600E	-	-	neg
pap18^d,e	36	m	wt	V600E	V600E	+	neg
pap19^d,e	40	m	wt	V600E	V600E	-	neg
pap20^d	36	f	wt	V600E	-	-	neg
pap21^e	48	f	wt	V600E	V600E	+	neg
pap22^e	48	f	-	-	V600E	++	neg
pap23^e	34	m	wt	V600E	V600E	++	neg
pap24	43	m	wt	V600E	-	-	neg
pap25	41	f	wt	V600E	-	-	neg
pap26	47	f	wt	V600E	V600E	-	neg
pap27	34	f	wt	V600E	-	-	neg
pap28	74	m	wt	V600E	V600E	-	neg
pap29^a,e	53	f	-	-	-	-	-
pap30^a,e	41	f	-	-	-	-	-
pap31^a,e	51	f	wt	-	V600E	-	-
pap32^{a 2}	50	m	wt	-	V600E	-	-
pap33^a,e	23	f	wt	-	V600E	-	-
pap34^a,e	69	f	wt	-	V600E	-	-
pap35^a,e	50	f	-	-	V600E	-	-
ada1	33	m	S33C	wt	-	-	neg
ada2	26	f	S33P	wt	-	-	pos
ada3	33	f	G34V	wt	-	-	pos
ada4	42	m	S33A; S33C	wt	-	-	pos
ada5	14	f	S37Y	wt	-	-	pos
ada6^d,e	14	m	T41I	wt	-	-	pos
ada7^c	61	f	S45P	wt	-	-	neg
ada8^c	47	f	S45P	wt	-	-	pos
ada9	2	f	T41I	wt	-	-	pos
ada10	3	m	D32H	wt	-	-	pos
ada11^d,e	11	m	T41I	wt	wt	-	pos
ada12	64	f	S45F	wt	-	-	pos
ada13	77	m	S33A	wt	-	-	-
ada14	20	m	A32F	wt	-	-	pos
ada15	49	m	G34R	wt	-	-	pos
ada16^d,e	56	m	S33F	wt	wt	-	pos
ada17	21	f	S33Y	wt	-	-	pos
ada18	70	m	S33C	wt	-	-	pos
ada19^d,e	9	f	S33C; T41S	wt	-	-	pos
ada20	8	m	S33C	wt	-	-	pos
ada21^d,e	15	m	T41I	wt	-	-	pos
ada22	54	f	S33F	wt	-	-	pos
ada23	4	f	S37F	wt	-	-	pos
ada24	52	f	G34C	wt	wt	-	pos
ada25	51	m	G34R	wt	-	-	pos
ada26	47	f	T41I	wt	-	-	pos
ada27	43	f	G34V	wt	-	-	neg
ada28	48	f	T41I	wt	-	-	pos
ada29^d,e	66	m	T41I	wt	wt	-	pos
ada30^d	11	f	T41A	wt	wt	-	pos
ada31^d,e	7	m	G34R	wt	-	-	pos
ada32^d,e	50	m	I35S	wt	wt	-	pos
ada33^d,e	15	f	T41A	wt	wt	-	pos
ada34	6	f	I35I; S37F	wt	-	-	pos
ada35	57	f	D32Y	wt	-	-	pos
ada36	58	f	S33C	wt	-	-	pos
ada37^d,e	32	m	D32V	wt	-	-	pos
ada38	28	m	D32N	wt	-	-	pos
ada39	6	m	G34V	wt	-	-	pos
ada40	66	f	S37C	wt	-	-	pos
ada41	48	m	S37F	wt	-	-	-
ada42	67	m	G34R	wt	-	-	pos
ada43	3	f	S37F	wt	wt	-	pos
ada44	47	f	S33C	wt	-	-	pos
ada45	64	m	S33C	wt	-	-	pos
ada46^e	3	m	S33F	wt	wt	-	pos
ada47	5	f	G34V	wt	-	-	pos
ada48^d,e	59	m	S33C	wt	wt	-	pos
ada49	72	m	S37V	wt	-	-	pos
ada50	4	f	D32H	wt	-	-	pos
ada51	53	m	S33C	wt	-	-	-
ada52	45	m	T41I	wt	-	-	pos
ada53^d,e	38	f	S33C	wt	wt	-	pos
ada54^d,e	16	f	D32N	wt	wt	-	pos
ada55	38	f	T41I	wt	-	-	pos
ada56^d,e	39	m	S33C	wt	wt	-	pos
ada57	61	f	S33C	wt	-	-	pos
ada58^d,e	58	m	S33A	wt	wt	-	pos
ada59^d,e	45	m	36_37del	wt	wt	-	pos
ada60^e	48	m	D32Y	wt	-	-	pos
ada61	28	m	S33C	wt	-	-	pos
ada62	64	f	T41A	wt	-	-	-
ada63	53	f	S33C	wt	-	-	pos
ada64	9	m	S33F	wt	-	-	pos
ada65	8	f	S33C	wt	-	-	pos
ada66^e	50	f	D32H	wt	wt	-	pos
ada67	20	f	T41I	wt	-	-	pos
ada68	50	m	S33C	wt	-	-	pos
ada69	25	f	D32H	wt	-	-	pos
ada70^d,e	37	m	D32H	wt	wt	-	pos
ada71	12	f	T41I	wt	wt	-	pos
ada72	54	m	del-85bp	wt	-	-	pos
ada73	27	f	S33C	wt	-	-	pos
ada74	61	f	D32F	wt	-	-	pos
ada75^e	37	m	35-46del	wt	wt	-	pos
ada76^e	51	m	D32Y	wt	wt	-	pos
ada77	63	m	S33F	wt	-	-	pos
ada78^e	9	f	-	-	-	-	pos
ada79^e	9	f	S33F	-	wt	-	pos
ada80^{a e}	9	f	T41A	-	wt	-	-

Age illustrates time at tumor surgery. Samples were screened for CTNNB1 and BRAF mutation using different standard techniques
VE1 BRAF V600E specific antibody, m male, f female, wt wild type, pos positive, neg negative, Pyro Pyrosequencing
^aPatient cohort under study comprising tissue specimens of papillary (pap) and adamantinomatous (ada) craniopharyngiomas (CP), collected from the archives of the Departments of Neuropathology in Erlangen and Heidelberg
^b = unclear CP subtype, − = not analysed, ^c = samples of one patient with a recurrent tumor after 14 years
^dsamples subject to analyses of gene expression using Affymetrix U133 Plus2.0 expression array or ^e450 k Illumina methylation array

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ISSN: 2051-5960

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