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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