[Central nervous system hemangioblastoma: its role in von Hippel-Lindau disease]

Haemangioblastoma within CNS occurs either as a sporadic tumor or as a syndrome referred to as Morbus Hippel-Lindau (MHL). Since 1993 it has been known that this disease is caused by MHL mutation of the suppressor gene on the chromosome 3p25-p26. The syndrome can include malign tumors of abdominal organs.

We treated 8 patients with CNS haemangioblastoma (5 males and 3 females) during the period of 1998-1999. Two of them were patients with MHL (numerous CNS or retinal haemangioblastomas). All patients were treated by radical extirpation of haemangioblastoma except for one who got ventricular-peritoneal shunt and his tumor was irradiated by linear accelerator. All patients were screened for the presence of abdominal carcinoma.

The post-operative course was good in all patients. The screening has not revealed any co-existence of malignant processes.

The treatment of haemangioblastoma is only a part of the complex therapy of MHL. The occurrence of carcinomas (especially those of the kidneys) is highly probable, and the mortality of patients with this affliction exceeds that associated with haemangioblastoma owing to its treatment by improved neurosurgical techniques. The patients must be permanently observed in order to reveal the carcinoma as soon as possible, as well as for its potential recurrence or de novo growth of haenangioblastomas. (Tab. 1, Fig. 2, Ref. 17.)