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. 1989 Aug;60(2):202–205. doi: 10.1038/bjc.1989.251

Structural alterations of the RB1 gene in human soft tissue tumours.

M R Stratton 1, S Williams 1, C Fisher 1, A Ball 1, G Westbury 1, B A Gusterson 1, C D Fletcher 1, J C Knight 1, Y K Fung 1, B R Reeves 1, et al.
PMCID: PMC2247029  PMID: 2765366

Abstract

Sixty-nine primary soft tissue tumours were examined for alterations of the RB1 gene which has previously been implicated in the genesis of retinoblastoma. In three tumours loss of both alleles of this gene (homozygous deletion) was detected. Two of these, both leiomyosarcomas, contained a chromosomal breakpoint within the RB1 gene, while in the third tumour, a radiation induced sarcoma, complete deletion was observed. Using a probe that detects a polymorphic locus within the RB1 gene we found loss of only one allele (heterozygous deletion) in 33% of soft tissue sarcomas examined, including two leiomyosarcomas, a malignant peripheral nerve sheath tumour, a rhabdomyosarcoma and a chondrosarcoma. When taken together our results suggest that alterations of the RB1 locus may play an important part in the pathogenesis of soft tissue tumours and particularly in leiomyosarcomas which accounted for four of the eight RB1 alterations observed in this study.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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