title: Selective loss of chromosome 11 in pheochromocytomas associated with the VHL syndrome.
abstract: 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.
authors.affiliation: Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden.
authors.forename: Weng Onn
authors.initials: WO
authors.lastname: Lui
authors.forename: Jindong
authors.initials: J
authors.lastname: Chen
authors.forename: Sven
authors.initials: S
authors.lastname: Gläsker
authors.forename: Bernhad U
authors.initials: BU
authors.lastname: Bender
authors.forename: Casey
authors.initials: C
authors.lastname: Madura
authors.forename: Sok Kean
authors.initials: SK
authors.lastname: Khoo
authors.forename: Eric
authors.initials: E
authors.lastname: Kort
authors.forename: Catharina
authors.initials: C
authors.lastname: Larsson
authors.forename: Harmut P H
authors.initials: HP
authors.lastname: Neumann
authors.forename: Bin Tean
authors.initials: BT
authors.lastname: Teh
mesh_terms: D000310:Adrenal Gland Neoplasms / Q000235:genetics*; D016543:Central Nervous System Neoplasms / Q000235:genetics; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000032:analysis; D018325:Hemangioblastoma / Q000235:genetics; D006801:Humans; D009377:Multiple Endocrine Neoplasia / Q000235:genetics; D009693:Nucleic Acid Hybridization; D010673:Pheochromocytoma / Q000235:genetics*; D013577:Syndrome; D006623:von Hippel-Lindau Disease / Q000235:genetics*
chemical_list: D004273:DNA, Neoplasm