Natural history of supratentorial hemangioblastomas in von Hippel-Lindau disease.
BACKGROUND
Supratentorial hemangioblastomas are rare lesions, occurring either sporadically or in von Hippel-Lindau disease.


OBJECTIVE
Following recent advances in our understanding of the natural history of von Hippel-Lindau-associated cerebellar and spinal hemangioblastomas, we conducted a study of the natural history of supratentorial hemangioblastomas in von Hippel-Lindau disease.


METHODS
We reviewed a series of 18 supratentorial hemangioblastomas in 13 patients with von Hippel-Lindau disease. Clinical, genetic, and serial imaging data and operative records were analyzed.


RESULTS
Hemangioblastomas were most commonly seen in the temporal lobe. Only 6 tumors had a cyst at diagnosis or during follow-up, and only 6 patients had associated symptoms at presentation or during follow-up. The most frequent clinical presentations were intracranial hypertension and visual loss. Of 14 tumors with documented serial imaging, 13 demonstrated tumor growth. Rates and patterns of tumor growth were unique to each patient. The mechanism of cyst formation described in other locations was also demonstrated in the supratentorial region. Patterns of peritumoral edema and rate of cyst formation seemed to be influenced by the presence of anatomic barriers. Germline VHL mutation was identified in all patients, but no specific genotype-phenotype correlation was found, although a familial predisposition is suggested.


CONCLUSIONS
This series illustrates the wide variation in tumor locations, patterns of growth, and edema progression seen in supratentorial hemangioblastomas and adds to our knowledge of the natural history of hemangioblastomas.
Peyre
Matthieu
M
Service de Neurochirurgie, Hôpital de Bicêtre, AP-HP, Le Kremlin-Bicêtre, France. matthieupeyre@hotmail.fr
David
Philippe
P
Van Effenterre
Remy
R
François
Patrick
P
Thys
Myriam
M
Emery
Evelyne
E
Redondo
Aimée
A
Decq
Philippe
P
Aghakhani
Nozar
N
Parker
Fabrice
F
Tadié
Marc
M
Lacroix
Catherine
C
Bhangoo
Ranjeev
R
Giraud
Sophie
S
Richard
Stéphane
S
D000293:Adolescent; D000328:Adult; D015331:Cohort Studies; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D018325:Hemangioblastoma / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D055815:Young Adult; D006623:von Hippel-Lindau Disease / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology