Table of Contents
1
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.
2
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. pfisher@stanford.edu
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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