Selective loss of chromosome 11 in pheochromocytomas associated with the VHL syndrome
2002; Springer Nature; Volume: 21; Issue: 7 Linguagem: Inglês
10.1038/sj.onc.1205149
ISSN1476-5594
AutoresWeng‐Onn Lui, Jindong Chen, Sven Gläsker, Bernhad U Bender, Casey Madura, Sok Kean Khoo, Eric J. Kort, Catharina Larsson, Harmut PH Neumann, Bin Tean Teh,
Tópico(s)Cancer, Lipids, and Metabolism
ResumoBy 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.
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