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Table 1 Findings from prior studies analyzing sporadic hemangioblastomas for somatic mutations, loss of heterozygosity or deletion of VHL

From: Sporadic hemangioblastomas are characterized by cryptic VHL inactivation

  

Somatic mutation

Loss of heterozygosity

Deletion

BiallelicVHLinactivation (%)

Reference

Patients

Method

Positive cases

Rate of somatic mutation (%)

Method

Positive cases

Rate of LOH (%)

Method

Positive cases

Rate of deletion (%)

Kanno et al. [6]

13

Sanger

3/13

23

NA

NA

NA

NA

NA

NA

NA

Oberstrass et al. [7]

18

Sanger

8/18

44

NA

NA

NA

NA

NA

NA

NA

Tse et al. [5]

5

Sanger

2/5

40

polymorphic markers

1/2

50

NA

NA

NA

10

Olschwang et al. [8]

18

Sanger

2/18

11

NA

NA

NA

NA

NA

NA

NA

Lee et al. [9]

20

Sanger

2/20

10

polymorphic markers

10/19

53

NA

NA

NA

11

Glasker et al. [3]

13

Sanger

3/13

23

polymorphic markers

5/13

38

NA

NA

NA

8

Gijtenbeek et al. [2]

16

Sanger

5/16

31

NA

NA

NA

CGH

11/16

69

19

Lemeta et al. [10]

11

NA

NA

NA

polymorphic markers

11/11

100

CGH

2/11

18

18