A 39 year old man was confirmed to have a germline exon 1 deletion of the VHL gene at age 26. Details regarding genotyping methods are not specified. He presented with epistaxis at age 34 and CT scans showed an ethmoid mass later identified as a primary microcystic adenoma. He underwent endoscopic transsphenoidal resection of the legion and he was negative for metastatic disease. Analysis of tumour DNA showed it to be heterozygous for an intron 1 polymorphism (c.341-50G>A). He had a history of cerebellar haemangioblastoma and ccRCC.