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Abramson Cancer CenterNCI CANCERLIT® Search: Tuberous Sclerosis - June 2002
National Cancer Institute®
Last Modified: June 1, 2002
- Mutational analysis of the von hippel lindau gene in clear cell renal carcinomas from tuberous sclerosis complex patients.
- Heterozygosity for the tuberous sclerosis complex (TSC) gene products results in increased astrocyte numbers and decreased p27-Kip1 expression
Table of Contents
1
UI - 11904337
AU - Duffy K; Al-Saleem T; Karbowniczek M; Ewalt D; Prowse AH; Henske EP
TI -
Mutational analysis of the von hippel lindau gene in clear cell renal
carcinomas from tuberous sclerosis complex patients.
SO - Mod Pathol 2002 Mar;15(3):205-10
AD - Medical Oncology Division, Fox Chase Cancer Center, Philadelphia,
Pennsylvania 19111, USA.
Tuberous sclerosis complex (TSC) is an autosomal-dominant disorder
characterized by seizures, mental retardation, autism, and tumors of
multiple organs. Renal disease in TSC includes angiomyolipomas, cysts,
and renal cell carcinomas. It is known that somatic mutations in the von
Hippel Lindau (VHL) tumor suppressor gene occur in most clear cell renal
carcinomas. To determine whether TSC-associated clear cell carcinomas
also contain VHL mutations, we analyzed six tumors for loss of
heterozygosity in the VHL gene region of chromosome 3p and for mutations
in the VHL gene. Four of the patients were women between the ages of 34
and 68 years, and two were males under the age of 21 years. The loss of
heterozygosity analysis was performed using polymorphic microsatellite
markers, and the mutational analysis was performed using direct
sequencing. Chromosome 3p loss of heterozygosity was not detected, and
no VHL mutations were identified. These findings suggest that mutations
in the TSC1 and TSC2 genes lead to clear cell renal carcinogenesis via
an alternate pathway not involving VHL mutations.
2
UI - 12037687
AU - Uhlmann EJ; Apicelli AJ; Baldwin RL; Burke SP; Bajenaru ML; Onda H;
TI -
Kwiatkowski D; Gutmann DH
Heterozygosity for the tuberous sclerosis complex (TSC) gene products
results in increased astrocyte numbers and decreased p27-Kip1 expression
in TSC2+/- cells.
SO - Oncogene 2002 Jun 6;21(25):4050-9
AD - Department of Neurology, Washington University School of Medicine, St
Louis, Missouri 63110, USA.
Tuberous sclerosis complex (TSC) is an autosomal dominant tumor
predisposition syndrome characterized by benign proliferations
(hamartomas). In the brain, individuals with TSC develop autism, mental
retardation and seizures associated with focal cortical dysplasias,
subependymal nodules, and subependymal giant cell astrocytomas (SEGAs).
We hypothesize that dysregulated astrocyte function due to mutations in
the tumor suppressor genes, TSC1 and TSC2, may contribute to the
pathogenesis of these brain abnormalities. In this report, we
demonstrate that mice heterozygous for a targeted defect in either the
Tsc1 or Tsc2 genes(Tsc1+/- and Tsc2+/- mice) exhibit a 1.5-fold increase
in the number of astrocytes in vivo. Whereas increased astrocyte numbers
in vivo were suggestive of a proliferative advantage, Tsc2+/- primary
astrocyte cultures did not show a cell-autonomous growth advantage,
anchorage-independent growth, increased saturation density, or increased
fluid-phase endocytosis compared to wild type astrocytes. Tsc2 null
mouse embryonic fibroblasts (MEFs) however, did exhibit increased
saturation density compared to Tsc2 wild type controls. In both Tsc2+/-
astrocytes and Tsc2 null mouse embryonic fibroblasts, p27-Kip1
expression was decreased compared to wild type cells, and was reversed
by tuberin re-expression in Tsc2-/- MEFs. In contrast, no change in
endocytosis was observed upon tuberin re-expression in Tsc2-/- MEFs.
Collectively, these results suggest Tsc heterozygosity may provide a
non-cell-autonomous growth advantage for astrocytes that may involve
p27-Kip1 expression.
The above citations and abstracts reflect those newly added to CANCERLIT for the month and topic listed in the title. The citations have been retrieved from CANCERLIT using a predefined search strategy of indexed subject terms. Although the search strategy has been refined as best as possible, citations may appear that are not directly related to the topic, and occasionally relevant references may be omitted.
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