National Cancer Institute®
Last Modified: February 1, 2002
UI - 11850829
AU - Lui WO; Chen J; Glasker S; Bender BU; Madura C; Khoo SK; Kort E; Larsson
TI - C; Neumann HP; Teh BT Selective loss of chromosome 11 in pheochromocytomas associated with the VHL syndrome.
SO - Oncogene 2002 Feb 7;21(7):1117-22
AD - Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden.
By using comparative genomic hybridization (CGH), we characterized the genetic profiles of 36 VHL-related pheochromocytomas. We then compared the results with those of sporadic and MEN 2-related pheochromocytomas. In 36 VHL-related tumors, loss of chromosome 3 and chromosome 11 were found in 34 tumors (94%) and 31 tumors (86%), respectively. There was significant concordance of deletions in chromosomes 3 and 11 (Kappa=0.64, P=0.0095), suggesting that they are involved in two different but necessary and complementary genetic pathways. The loss of chromosome 11 appeared to be specific for VHL-related pheochromocytoma as it was not present in any of the 10 VHL-related CNS hemangioblastomas studied and was significantly less common when compared with (a) sporadic pheochromocytomas from previously published results (13%; P=<0.0001), and (b) MEN 2-related pheochromocytomas from this and previously published studies (30%; P=0.0012). In summary, this is the first report of a novel consistent genetic alteration that is selected and specific for VHL-related pheochromocytoma, besides the two hits of the VHL gene.
UI - 11835384
AU - Fisher PG; Tontiplaphol A; Pearlman EM; Duffner PK; Hyder DJ; Stolle CA;
TI - Vortmeyer AO; Zhuang Z Childhood cerebellar hemangioblastoma does not predict germline or somatic mutations in the von Hippel-Lindau tumor suppressor gene.
SO - Ann Neurol 2002 Feb;51(2):257-60
AD - Department of Neurology, Stanford University School of Medicine, Palo Alto, CA 94305-5235, USA. firstname.lastname@example.org
Tumor suppressor gene "knockout" models would predict that children who present with hemangioblastoma are likely to harbor germline mutation of the von Hippel-Lindau gene. We screened 6 pediatric patients with cerebellar hemangioblastoma for germline or somatic mutations of the von Hippel-Lindau gene. Two had prior clinical manifestations of von Hippel-Lindau disease and, as expected, had germline von Hippel-Lindau gene mutations. Four children with solitary hemangioblastoma did not have a detectable germline deletion, rearrangement, or point mutation in their von Hippel-Lindau gene, and tumor specimens in 3 of these 4 showed no somatic von Hippel-Lindau allelic loss. Solitary cerebellar hemangioblastoma in children does not predict a germline or somatic mutation in the von Hippel-Lindau tumor suppressor gene. The tumorigenesis of hemangioblastoma in younger patients may differ from that in adults, and may involve a molecular process unrelated to the von Hippel-Lindau tumor suppressor pathway.
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