Incidence of von Hippel-Lindau disease in hemangioblastoma patients: The University of Tokyo Hospital experience from 1954-1998

Background Incidence of von Hippel-Lindau disease among hemangioblastomas i s important clinical information affecting the management of hemangioblasto mas. Studies from Western countries reported 36-40% for the incidence, but no report has been made on the Japanese population. Method To investigate the incidence in Japan, we retrospectively analyzed a ll hemangioblastoma patients treated at The University of Tokyo Hospital fr om 1954 to 1998. By reviewing medical records and imaging studies, von Hipp el-Lindau disease was diagnosed clinically following the currently suggeste d diagnostic criteria. Findings. There were 82 hemangioblastoma patients recorded during the perio d, and 14 cases (17%) were compatible with von Hippel-Lindau disease. Howev er, when the incidence was calculated for each of the three 15-year periods , which are 1954-1968 (first), 1969-1984 (second), and 1985-1998 (third), t he number increased dramatically in the later periods: 2 of 33 (6%) during the first, 4 of 26 (15%) during the second, and 8 of 22 (36%) during the th ird period. Such increase occurred after the introduction of whole body CT to our institution in 1981, suggesting that improvement of imaging techniqu es contributed to the sensitivity of diagnosis. In addition, one recent pat ient with multiple hemangioblastomas was found to harbor germline mutation of the VHL, thereby being diagnosed as von Hippel-Lindau disease on the bas is of molecular genetics. Interpretation. The 40% incidence of von Hippel-Lindau disease in hemangiob lastomas suggests that extensive screening for von Hippel-Lindau disease as sociated neoplasms, and probably molecular genetic examination, is indicate d for all patients with hemangioblastomas, which should aim for earlier dia gnosis and better management of this devastating hereditary disease.