The patient cohort consisted of 57 patients (26 male and 31 female) from Southern Italy, most of whom (55 of 57) presented with solitary HGB of the CNS: 6 were syndromic and 51 were apparently sporadic. 8 patients had germline VHL mutations. Both peripheral blood and tumor tissue samples were sequenced using Big Dye Terminator Ready Reaction mix v.1.1 (Life Technologies, Foster City, CA). Sequencing reactions were loaded on an ABI 3100 capillary sequencer (Life Technologies) and analyzed using the Sequencing Analysis software v.3.7 (PE Applied Biosystems, Grand Island, NY). One Italian patient (Case ID HGB-19) with a germline missense mutation (c.341G>T; p.Gly114Val) in the VHL gene was diagnosed at age 32 with cerebellar hemangioblastoma, and developed spinal hemangioblastoma at 40Y. The patient had no family history of VHL disease.

The patient cohort consisted of 57 patients (26 male and 31 female) from Southern Italy, most of whom (55 of 57) presented with solitary HGB of the CNS: 6 were syndromic and 51 were apparently sporadic. 8 patients had germline VHL mutations. Both peripheral blood and tumor tissue samples were sequenced using Big Dye Terminator Ready Reaction mix v.1.1 (Life Technologies, Foster City, CA). Sequencing reactions were loaded on an ABI 3100 capillary sequencer (Life Technologies) and analyzed using the Sequencing Analysis software v.3.7 (PE Applied Biosystems, Grand Island, NY). One Italian patient (Case ID HGB-19) with a germline missense mutation (c.341G>T; p.Gly114Val) in the VHL gene was diagnosed at age 32 with cerebellar hemangioblastoma, and developed spinal hemangioblastoma at 40Y. The patient had no family history of VHL disease.