Strategy for diagnosis, therapy and follow-up of patiens with CNS haemangioblastoma from the perspective of a neurosurgeon
Abstract
The aim of our study was to establish a strategy of diagnosis, treatment and follow-up of patients after surgery for CNS haemangioblastoma (HB) and to evaluate its use in our group of patients. Primarily, it was necessary to distinguish between patients with sporadic HBs and those with von Hippel-Lindau disease (mVHL).
Originally, the diagnosis of this genetically transmitted disease was made based on clinical findings only, including a combination ofHB presence and mVHL-associated tumours and both familiar and multilocal or recurrent HBs. This diagnostic approach resulted in many false positive as well as false negative conclusions.
The introduction of VHL gene DNA analysis into clinical practice facilitated unequivocal identification of patients with mVHL. We then focused on patient screening.
If mVHL was not proved and post-surgical MRI was negative, no further follow-up was indicated. In the presence of positive germinal VHL gene mutation and absence of other CNS lesions, MRI was repeated every 12 months.
In case of newly identified CNS HBs not indicated for surgery, MRI is performed and surgical treatment reconsidered every six months. It depends on the patient's clinical condition, cyst and solid tumour volume and, in particular, on tumour location.
Clinical signs are also influenced by neoplasm growth rate and character. This strategy has been extrapolated to mVHL-associated extraneuronal tumours.
CNS HB was the only manifestation in a substantial number of patients with confirmed VHL gene mutation. Surgical approach tumour location and characteristics are of major importance.
A DNA analysis-based follow-up strategy was designed and applied to all patients with histologically verified HB. The goal is to detect other signs of mVHL before they are manifested clinically.