A Strategy for Diagnosis, Therapy and Follow-up of Patiens with CNS Haemangioblastoma from the Perspective of a Neurosurgeon


Authors: O. Kalita 1;  M. Vaverka 1;  L. Hrabálek 1;  M. Zlevorová 2;  A. Šantavá 3;  A. Křepelová 4;  J. Ehrmann Jr 5;  E. Čecháková 6
Authors‘ workplace: Neurochirurgická klinika LF UP a FN Olomouc 1;  Onkologická klinika LF UP a FN Olomouc 2;  Oddělení klinické genetiky LF UP a FN Olomouc 3;  Ústav biologie a lékařské genetiky 2. LF UK a FN v Motole, Praha 4;  Laboratoř molekulární patologie, Oddělení patologie LF UP a FN Olomouc, Ústav molekulární a translační medicíny (BIOMEDREG) 5;  Radiologická klinika LF UP a FN Olomouc 6
Published in: Cesk Slov Neurol N 2013; 76/109(5): 623-629
Category: Short Communication

Overview

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.

Key words:
haemangioblastoma –  von Hippel‑ Lindau disease –  genetic testing

The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study.

The Editorial Board declares that the manu­script met the ICMJE “uniform requirements” for biomedical papers.


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Labels
Paediatric neurology Neurosurgery Neurology

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Czech and Slovak Neurology and Neurosurgery

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