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 |