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© 1994 Oxford University Press

OTHER

9q34 loss of heterozygosity in a tuberous sclerosis astrocytoma suggests a growth suppressor-like activity also for the TSC1 gene

Caterina Carbonara1, Lucia Longa1, Enrico Grosso1, Carla Borrone2, Maria Grazia Garré3, Massimo Brisigotti4 and Nicola Migone1,*

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

*To whom correspondence should be addressed

Received June 13, 1994; Revised August 6, 1994; Accepted August 6, 1994

Tuberous sclerosis is an autosomal dominant disease whose characteristic feature is the development of multiple hamartomas in a variety of organs and tissues. Two major loci have been identified so far: TSC1 on chromosome 9q34 and TSC2 on chromosome 16p13.3. Loss of heterozygosity at 16p13.3-associated markers has been recently observed in hamartomatous lesions of some tuberous sclerosis patients. Here we report the first evidence of loss of heterozygosity at the TSC1 critical region in a giant cell astrocytoma of a familial tuberous sclerosis case. Segregation analysis showed that the 9q34 haplotype lost carried the putative normal TSC1 gene. These data support the hypothesis of both a germline and somatic loss-of-function mutation for the development of tuberous sclerosis hamartomas and suggest a tumor-suppressor-like activity also for the TSC1 gene product. Finally, the possible significance of a second small region of loss of heterozygosity at 9p21, found in the same astrocytoma, is discussed.


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