Loss of tuberin in both subependymal giant cell astrocytomas and angiomyolipomas supports a two-hit model for the pathogenesis of tuberous sclerosis tumors.

作者: B. W. Scheithauer , D. J. Kwiatkowski , E. P. Henske , L. L. Wessner , R. S. Yeung

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摘要: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by seizures, mental retardation, and tumors of skin, brain, heart, kidney. In this study, we focused on two the most frequent in TSC patients, renal angiomyolipomas subependymal giant cell astrocytomas (SEGAs). Two questions were addressed. First, loss tuberin, product TSC2 gene, seen both central nervous system from patients? Second, when tuberin occurs, does it affect each types these tumors? We used a heterozygosity approach to identify patients. found immunostaining spindle epithelioid cells but not six SEGAs. also all three (smooth muscle, fat, vessels) angiomyolipomas. Chromosome 16p13 occurred SEGA smooth muscle fat vessels These results support two-hit tumor suppressor model for pathogenesis SEGAs The vascular elements may be reactive rather than neoplastic.

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