9q34 loss of heterozygosity in a tuberous sclerosis astrocytoma suggests a growth suppressor-like activity also for the TSC1 gene |
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Authors: | Carbonara, Caterina Longa, Lucia Grosso, Enrico Borrone, Carla Garre, Maria Grazia Brisigotti, Massimo Migone, Nicola |
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Affiliation: | 1CNR Centro Immunogenetica ed Oncologia Sperimentale and Dipartimento di Genetica, Biologia e Chimica Medica, Università di Torino 10126 Torino 2II Clinica Pediatrica, Istituto G.Gaslini 16148 Genova 3Divisione di Emato-oncologia Pediatrica, Istituto G.Gaslini 16148 Genova 4I Divisione di Anatomia Patologica, Ospedale Civile 25100 Brescia, Italy |
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Abstract: | Tuberous sclerosis is an autosomal dominant disease whose characteristicfeature is the development of multiple hamartomas in a varietyof organs and tissues. Two major loci have been identified sofar: TSC1 on chromosome 9q34 and TSC2 on chromosome 16p13.3.Loss of heterozygosity at 16p13.3-associated markers has beenrecently observed in hamartomatous lesions of some tuberoussclerosis patients. Here we report the first evidence of lossof heterozygosity at the TSC1 critical region in a giant cellastrocytoma of a familial tuberous sclerosis case. Segregationanalysis showed that the 9q34 haplotype lost carried the putativenormal TSC1 gene. These data support the hypothesis of botha germline and somatic loss-of-function mutation for the developmentof tuberous sclerosis hamartomas and suggest a tumor-suppressor-likeactivity also for the TSC1 gene product. Finally, the possiblesignificance of a second small region of loss of heterozygosityat 9p21, found in the same astrocytoma, is discussed. |
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