Multifocal renal cell carcinoma in sibs from a chromosome 9 linked (TSC1) tuberous sclerosis family.
Open Access
- 1 November 1995
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 32 (11) , 848-850
- https://doi.org/10.1136/jmg.32.11.848
Abstract
Multifocal renal cell carcinomas (RCCs), together with angiomyolipomas (AMLs) and renal cysts, were identified in early adult life in two sisters with tuberous sclerosis (TSC). They were members of a multigenerational tuberous sclerosis family showing strong evidence for a mutant TSC causing gene on chromosome 9 (TSC1). Previous reports of multifocal RCC in young patients with TSC suggest that constitutional mutations at the TSC loci may predispose to RCC. In the rat a germline mutation affecting the TSC2 gene is associated with transmission of multifocal RCC as an autosomal dominant trait. However, the cases reported here are the first to suggest a similar role for the TSC1 gene in renal cell carcinogenesis.Keywords
This publication has 21 references indexed in Scilit:
- A germline insertion in the tuberous sclerosis (Tsc2) gene gives rise to the Eker rat model of dominantly inherited cancerNature Genetics, 1995
- Predisposition to renal carcinoma in the Eker rat is determined by germ-line mutation of the tuberous sclerosis 2 (TSC2) gene.Proceedings of the National Academy of Sciences, 1994
- Refined localization of TSC1 by combined analysis of 9q34 and 16pl3 data in 14 tuberous sclerosis familiesHuman Genetics, 1994
- Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patientsNature Genetics, 1994
- Identification of markers flanking the tuberous sclerosis locus on chromosome 9 (TSC1).Journal of Medical Genetics, 1993
- Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney diseaseNature Genetics, 1992
- Tuberous sclerosis and the relation with renal angiomyolipoma. A genetic study on the clinical aspectsClinical Genetics, 1989
- Tuberous sclerosis with angiomyolipoma and metastasized hypernephromaUrology, 1986
- Coincident renal cell carcinoma and renal angiomyolipoma in tuberous sclerosisAmerican Journal of Roentgenology, 1979
- Mutation and Cancer: Statistical Study of RetinoblastomaProceedings of the National Academy of Sciences, 1971