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NCI CANCERLIT^® Search: Tuberous Sclerosis - September 2002

Imprima English

National Cancer Institute^®
Ultima Vez Modificado: 1 de septiembre del 2002

Tuberous sclerosis. The persistent challenge of clinical diagnosis.
SNP identification, haplotype analysis, and parental origin of mutations in TSC2.
Functional tyrosine kinase inhibitor profiling: a generally applicable method points to a novel role of platelet-derived growth factor

Table of Contents

1
UI - 7492142
AU - Schnur RE
TI - Tuberous sclerosis. The persistent challenge of clinical diagnosis.
SO - Arch Dermatol 1995 Dec;131(12):1460-2

2
UI - 12136241
AU - Roberts PS; Chung J; Jozwiak S; Dabora SL; Franz DN; Thiele EA;
TI - Kwiatkowski DJ SNP identification, haplotype analysis, and parental origin of mutations in TSC2.
SO - Hum Genet 2002 Jul;111(1):96-101
AD - Hematology Division, Brigham & Women's Hospital, Harvard Medical School, 221 Longwood Ave., Boston, MA 02115, USA.
Inactivating mutations in the TSC2 gene, consisting of 41coding exons in 40 kb on 16p13, cause the hamartoma syndrome tuberous sclerosis. During TSC2 mutational analysis we identified ten SNPs that occur within or close to exon boundaries at minor allele frequencies greater than 5%. We determined the haplotypes for six of these SNPs and the microsatellite marker kg8 in the 3' region of TSC2 in a set of 40 parent-child trios. The most common haplotypes accounted for 53%, 11%, 6%, and 5% of chromosomes. Thirty-eight TSC2 mutation-bearing haplotypes had a similar distribution, indicating that there was no haplotype that predisposed to mutation in this region of TSC2. Family analysis was possible in 12 sporadic cases, and indicated that the mother was the parent of origin in 7 cases (3 point mutations, 2 small deletions, 2 large deletions), while the father was in 5 cases (2 point mutations, 3 small deletions). We conclude that TSC2 mutations occur at substantial frequency on both the maternally and paternally derived TSC2 alleles, in contrast to many other genetic diseases including NF1. The observations have implications for genetic counseling in TSC.

3
UI - 12213705
AU - Arbiser JL; Govindarajan B; Bai X; Onda H; Kazlauskas A; Lim SD; Amin
TI - MB; Claesson-Welsh L Functional tyrosine kinase inhibitor profiling: a generally applicable method points to a novel role of platelet-derived growth factor receptor-beta in tuberous sclerosis.
SO - Am J Pathol 2002 Sep;161(3):781-6
AD - Department of Dermatology, Emory University School of Medicine, Atlanta, Georgia 30322, USA. jarbise@emory.edu
Tumors often exhibit activation of specific tyrosine kinases, which may allow targeting of therapy through inhibition of tyrosine kinase signaling. This strategy has been used successfully in the development of STI571 (gleevec), an inhibitor of bcr-abl tyrosine kinase that has been used successfully in the treatment of chronic myelogenous leukemia. STI571 also shows activity against c-kit and platelet-derived growth factor receptor-beta (PDGFRbeta) tyrosine kinase signaling, thus potentially expanding the number of tumors that may respond to it. We describe a simple and rapid method to assess functional activity of tyrosine kinase signaling that is broadly applicable to tumor types. As proof of principle, we have applied it to cells that serve as models of the autosomal-dominant tumor syndrome tuberous sclerosis (TS). We found that TS model cells derived from tuberin heterozygous mice and from a human renal angiomyolipoma are highly sensitive to PDGFR antagonists and that these cells express PDGFRbeta. Given that PDGFRbeta signaling is inhibited by STI571, we found that SV7tert human angiomyolipoma cells are sensitive to STI571. Thus, we describe a novel but simple method of determining the functional tyrosine kinase profile of a neoplastic cell and our results suggest that STI571 might be useful in the treatment of neoplasms commonly seen in patients with TS.

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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