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. 1990 Aug;53(8):644–648. doi: 10.1136/jnnp.53.8.644

Central nervous system haemangioblastoma: a clinical and genetic study of 52 cases.

A M Boughey 1, N A Fletcher 1, A E Harding 1
PMCID: PMC488164  PMID: 2213041

Abstract

Fifty two cases of haemangioblastoma were reviewed for their clinical, genetic and prognostic features. Of 34 patients with apparently isolated cerebellar lesions, postoperative outcome was good in 79%. Six isolated spinal lesions presented more insidiously and morbidity was related to incomplete resection. Twelve (23%) of the patients definitely had von Hippel-Lindau disease (VHLD). The true proportion may be higher as this diagnosis was not definitely excluded in many of the remainder; only ten patients with seemingly isolated cerebellar tumours were appropriately investigated and two had evidence of VHLD. Four out of 26 cases (15%) with apparently completely resected, isolated, cerebellar lesions later developed recurrent tumours. Brainstem and supratentorial haemangioblastomas were rare and were always associated with VHLD. The cerebellar or spinal haemangioblastomas due to VHLD had no distinctive clinical features compared with isolated tumours and there was considerable overlap in age of onset between the two groups of cases. All patients with an apparently isolated CNS haemangioblastoma should be investigated for evidence of von Hippel-Lindau disease.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. CRAMER F., KIMSEY M. W. The cerebellar hemangioblastomas; review of fifty-three cases with special reference to cerebellar cysts and the association of polycythemia. AMA Arch Neurol Psychiatry. 1952 Feb;67(2):237–252. [PubMed] [Google Scholar]
  2. Fletcher N. A., Harding A. E., Marsden C. D. A genetic study of idiopathic torsion dystonia in the United Kingdom. Brain. 1990 Apr;113(Pt 2):379–395. doi: 10.1093/brain/113.2.379. [DOI] [PubMed] [Google Scholar]
  3. Go R. C., Lamiell J. M., Hsia Y. E., Yuen J. W., Paik Y. Segregation and linkage analyses of von Hippel Lindau disease among 220 descendants from one kindred. Am J Hum Genet. 1984 Jan;36(1):131–142. [PMC free article] [PubMed] [Google Scholar]
  4. Horton W. A., Wong V., Eldridge R. Von Hippel-Lindau disease: clinical and pathological manifestations in nine families with 50 affected members. Arch Intern Med. 1976 Jul;136(7):769–777. doi: 10.1001/archinte.136.7.769. [DOI] [PubMed] [Google Scholar]
  5. Huson S. M., Harper P. S., Hourihan M. D., Cole G., Weeks R. D., Compston D. A. Cerebellar haemangioblastoma and von Hippel-Lindau disease. Brain. 1986 Dec;109(Pt 6):1297–1310. doi: 10.1093/brain/109.6.1297. [DOI] [PubMed] [Google Scholar]
  6. Jeffreys R. Clinical and surgical aspects of posterior fossa haemangioblastomata. J Neurol Neurosurg Psychiatry. 1975 Feb;38(2):105–111. doi: 10.1136/jnnp.38.2.105. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Jennings A. M., Smith C., Cole D. R., Jennings C., Shortland J. R., Williams J. L., Brown C. B. Von Hippel-Lindau disease in a large British family: clinicopathological features and recommendations for screening and follow-up. Q J Med. 1988 Mar;66(251):233–249. [PubMed] [Google Scholar]
  8. MELMON K. L., ROSEN S. W. LINDAU'S DISEASE. REVIEW OF THE LITERATURE AND STUDY OF A LARGE KINDRED. Am J Med. 1964 Apr;36:595–617. doi: 10.1016/0002-9343(64)90107-x. [DOI] [PubMed] [Google Scholar]
  9. OLIVECRONA H. The cerebellar angioreticulomas. J Neurosurg. 1952 Jul;9(4):317–330. doi: 10.3171/jns.1952.9.4.0317. [DOI] [PubMed] [Google Scholar]
  10. PENROSE L. S. Parental age and mutation. Lancet. 1955 Aug 13;269(6885):312–313. doi: 10.1016/s0140-6736(55)92305-9. [DOI] [PubMed] [Google Scholar]
  11. Palmer J. J. Haemangioblastomas. A review of 81 cases. Acta Neurochir (Wien) 1972;27(3):125–148. doi: 10.1007/BF01401877. [DOI] [PubMed] [Google Scholar]
  12. SILVER M. L., HENNIGAR G. Cerebellar hemangioma (hemangioblastoma); a clinicopathological review of 40 cases. J Neurosurg. 1952 Sep;9(5):484–494. doi: 10.3171/jns.1952.9.5.0484. [DOI] [PubMed] [Google Scholar]
  13. Seizinger B. R., Rouleau G. A., Ozelius L. J., Lane A. H., Farmer G. E., Lamiell J. M., Haines J., Yuen J. W., Collins D., Majoor-Krakauer D. Von Hippel-Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma. Nature. 1988 Mar 17;332(6161):268–269. doi: 10.1038/332268a0. [DOI] [PubMed] [Google Scholar]
  14. Zbar B., Brauch H., Talmadge C., Linehan M. Loss of alleles of loci on the short arm of chromosome 3 in renal cell carcinoma. 1987 Jun 25-Jul 1Nature. 327(6124):721–724. doi: 10.1038/327721a0. [DOI] [PubMed] [Google Scholar]

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