Table 2

Frequencies of tumours in the present series compared to both Pennsylvania families with c.505 T>C and to 706 previously reported cases with various VHL germline mutations.5 6 9 18 Percentages of VHL lesions in the present study are related to the number of patients who underwent systematic clinical investigations for the different tumours (n=91–118). With respect to CNS haemangioblastomas in both Pennsylvania families, no exact localisation (brain versus spine) has been reported

Lesion Present series (c.505 T>C) c.505 T>C positive subjects (n=55) from Pennsylvania families 3127 and 3476 Unselected previous cases (n=706)
Phaeochromocytoma55/118 (47%)30 (55%)117  (17%)
Retinal angioma41/115 (36%)26 (47%)406 (58%)
Spinal cord haemangioblastoma33/91 (36%)Together 5 (9%)99 (14%)
Haemangioblastoma of the brain18/111 (16%)393 (56%)
Renal cell carcinoma 4/118 (3%) 0 (0%)176 (25%)