Clinical diagnostic criteria require the presence of a single VHL-related neoplasm (e.g., haemangioblastoma, cRCC, PPGL, PNET, ELST) in an individual with a confirmed family history of VHL disease or, if there is no family history, two haemangioblastomas or a haemangioblastoma and a second VHL-related tumour [5,8,11]. The gene discussed is VHL; the disease is primitive neuroectodermal tumor.