title: Loss of heterozygosity in the tuberous sclerosis (TSC2) region of chromosome band 16p13 occurs in sporadic as well as TSC-associated renal angiomyolipomas.
abstract: Angiomyolipomas (AMLs) are renal tumors that occur both sporadically and in association with tuberous sclerosis (TSC). TSC is an autosomal dominant disorder characterized by hamartomatous lesions in multiple organs. Two TSC loci are recognized: TSC1 on 9q34 and TSC2 on 16p13. Loss of heterozygosity (LOH) at the TSC1 and TSC2 loci in lesions from TSC patients has recently been reported. Lesions that are not associated with TSC have not been previously examined for LOH at the TSC loci. We analyzed 29 renal angiomyolipomas from patients without a history of TSC. Three tumors demonstrated LOH on 16p13. This is the first report indicating that mutations in TSC2 occur in tumors of patients who do not have TSC. We also found LOH on 16p13 in 5 of 8 TSC-associated AMLs. Two of these tumors were from a single patient and demonstrated different regions of LOH. These findings support the hypothesis that the TSC2 gene functions as a tumor suppressor.
authors.affiliation: Division of Experimental Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.
authors.forename: E P
authors.initials: EP
authors.lastname: Henske
authors.forename: H P
authors.initials: HP
authors.lastname: Neumann
authors.forename: B W
authors.initials: BW
authors.lastname: Scheithauer
authors.forename: E W
authors.initials: EW
authors.lastname: Herbst
authors.forename: M P
authors.initials: MP
authors.lastname: Short
authors.forename: D J
authors.initials: DJ
authors.lastname: Kwiatkowski
mesh_terms: D000328:Adult; D000483:Alleles; D018207:Angiomyolipoma / Q000150:complications / Q000235:genetics*; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D016147:Genes, Tumor Suppressor / Q000235:genetics*; D005819:Genetic Markers; D006801:Humans; D007680:Kidney Neoplasms / Q000150:complications / Q000235:genetics*; D008875:Middle Aged; D012097:Repressor Proteins / Q000235:genetics*; D014402:Tuberous Sclerosis / Q000150:complications / Q000235:genetics*; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins
chemical_list: D005819:Genetic Markers; D012097:Repressor Proteins; C000624653:TSC2 protein, human; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins