According to the WHO Blue Book, the clinical diagnosis of VHL disease is based on the presence of hemangioblastoma in the CNS or retina, the presence of one of the typical VHL-associated tumours, or a previous family history.1 In the present study, one case which expressed markers of hemangioblastoma and CCRCC was subjected to Sanger DNA sequencing. The gene discussed is VHL; the disease is hemangioblastoma.