Table 1

Mutations of the VHL gene in VHL related and sporadic haemangioblastomas of the CNS. 42 tumours from 31 patients were investigated

Tumour No		Tumour location		Germline mutation				Somatic mutation
Tumour No		Tumour location		Nucleotide	AA			Mutation type	LOH	Methylation
VHL related tumours (n=29 investigated):
1a	Cerebellum	446 A/G	N78S	Missense		LOH	Negative
1b	Cerebellum	446 A/G	N78S	Missense		LOH	Negative
1c	Cerebellum	446 A/G	N78S	Missense		LOH	Negative
2	Cerebellum	746 T/A	L178P	Missense		LOH	Negative
3a	Cerebellum	699 C/G	C162W	Missense		Negative	Negative
3b	Cerebellum	699 C/G	C162W	Missense		LOH	Negative
4	Cerebellum	479 T/C	L89P	Missense		NI	Negative
5a	Cerebellum	761 C/A	S183X	Nonsense		NI	Negative
5b	Cerebellum	761 C/A	S183X	Nonsense		NI	Negative
6	Cerebellum	2 kb del		Deletion		LOH	Negative
7a	Cerebellum	2 kb del		Deletion		LOH	Negative
7b	Spine T8/9	2 kb del		Deletion		LOH	Negative
8a	Cerebellum	443 ins TCT	77insL	In frame insertion		Negative	Negative
8b	Cerebellum	443 ins TCT	77insL	In frame insertion		Negative	Negative
8c	Cerebellum	443 ins TCT	77insL	In frame insertion		Negative	Negative
8d	Cerebellum	443 ins TCT	77insL	In frame insertion		Negative	Negative
9	Spine C4/5	Not detected				Negative	Negative
10	Cerebellum	479 T/C	L89P	Missense		NI	Negative
11	Cerebellum	505 T/C	Y98H	Missense		NI	Negative
12	Vermis	665 T/C	I151T	Missense		LOH	Negative
13	Cerebellum	505 T/C	Y98H	Missense		Negative	Negative
14a	Cerebellum	Partial deletion^1-150		Deletion		NI	Negative
14b	Cerebellum	Partial deletion^1-150		Deletion		NI	Negative
15	Cerebellum	529 ins GCC	106insR	In frame insertion		NI	Negative
16	Cerebellum	2 kb del		Deletion		LOH	Negative
17a	Med. obl.	505 T/C	Y98H	Missense		LOH	Negative
17b	Spine C8	505 T/C	Y98H	Missense		Negative	Negative
18a	Cerebellum	475 T/A	W88R	Missense		LOH	Negative
18b	Spine T7/8	475 T/A	W88R	Missense		LOH	Negative
Tumour No		Tumour location		Germline mutation		Somatic mutation
Tumour No		Tumour location		Germline mutation		SSCP		LOH	Methylation
Sporadic tumours (n=13 investigated):
19	Cerebellum	Not detected		Not detected		LOH	Negative
20	Cerebellum	Not detected		Not detected		Negative	Negative
21	Med. obl.	Not detected		612 del TG frameshift		Negative	Negative
22	Cerebellum	Not detected		Not detected		Negative	Negative
23	Med. obl.	Not detected		Not detected		LOH	Negative
24	Cerebellum	Not detected		Not detected		Negative	Negative
25	Cerebellum	Not detected		Not detected		LOH	Negative
26	Med obl	Not detected		Not detected		NI	Negative
27	Cerebellum	Not detected		Not detected		NI	Negative
28	Spine, C1/2	Not detected		694 C/T R161X		Negative	Negative
29	Cerebellum	Not detected		681 ins 11bp frameshift		LOH	Negative
30	Spine, T11	Not detected		Not detected		NI	Negative
31	Cerebellum	Not detected		Not detected		LOH	Negative

LOH=Loss of heterozygosity; NI=Not informative for LOH analysis; Med obl=medulla oblongata.
↵1-150 Result with kind permission of Dr Stolle, Department of Medical Genetics, University of Pennsylvania. Some of the listed germline mutations were detected in collaboration with Dr Brauch and coworkers.28 Patients 4 and 10 had the same mutation 479 T/C and were related. Furthermore the patients with the mutation 505 T/C (patients 11, 13, and 17) were related. All other patients were Not related.