Loss of heterozygosity reveals non-VHL allelic loss in hemangioblastomas at 22q13

Marie E. Beckner, Eizaburo Sasatomi, Patricia A. Swalsky, Ronald L. Hamilton, Ian F. Pollack, Sydney D. Finkelstein

Research output: Contribution to journalArticlepeer-review

3 Scopus citations


Hemangioblastomas (HBs) are low-grade (World Health Organization grade I/IV) central nervous system (CNS) tumors that frequently contain VHL (3p26) mutations. They occur sporadically and in von Hippel Lindau (VHL) disease. Encoded pVHL aids degradation of hypoxia-inducible factors (HIFs) in the presence of normal oxygen levels. HBs provide an in vivo view of HIF effects within a CNS tumor. Typically, HBs are cystic tumors containing a mural nodule formed by noninvasive, vacuolated stromal cells that are embedded in a network of capillaries. Nine HBs, consecutively resected from 8 patients at our institution during a recent 2-year time span, were evaluated for additional losses of tumor suppressor genes. Non-VHL microsatellites studied for loss of heterozygosity (LOH) are near tumor suppressor genes lost in gliomas, pituitary adenomas, several CNS tumors on 22q, neurofibromatosis 1, and colon carcinomas (13, 2, 2, 1, and 2 markers for each, respectively). LOH in the region of 3p21.3-3p26.3 occurred in 3 of 8 HBs informative for at least 1 marker (D3S1539, D3S2303, or D3S2373). By using 2 markers (D22S417 and D22S532) for 22q13.2, LOH was found in 5 of 8 informative HBs. All 3 HBs with allelic losses near VHL also showed LOH at 22q13.2. No consistent losses were found with markers for 1p34, LMYC, 5q21, 5q32, 9p21, 10q23, 17p13, and 19q13. LOH for the 22q13.2 region in HBs suggests that the loss of another tumor suppressor gene is involved in the pathogenesis of HBs in addition to VHL. Absence of LOH for glioma markers is consistent with the low-grade behavior of HBs.

Original languageEnglish (US)
Pages (from-to)1105-1111
Number of pages7
JournalHuman Pathology
Issue number9
StatePublished - Sep 2004
Externally publishedYes


  • APC
  • HBs
  • HIFs
  • LOH
  • VEGF
  • VHL
  • hemangioblastoma
  • hemangioblastomas
  • hypoxia-inducible factors
  • loss of heterozygosity
  • tumor suppressor genes
  • vascular endothelial growth factor
  • von Hippel Lindau

ASJC Scopus subject areas

  • Pathology and Forensic Medicine


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