title: Loss of heterozygosity and methylation of p16 in renal cell carcinoma.
abstract: To investigate the possible role of genomic aberrations of chromosome 9p21 in the tumorigenesis of human renal cell carcinoma (RCC), 40 sporadic RCCs were studied using PCR analyses. The tumours were predominantly low stage and low grade. Loss of heterozygosity (LOH) was observed in nine of 39 informative cases, but no homozygous deletion was noticed. Hypermethylation of the promoter region of p16 occurred in eight of the 40 RCCs. No correlation was found between hypermethylation of the p16 gene and LOH on 9p21. A similar level of LOH and methylation was observed in the 40 RCCS regardless of histology, grade and stage. These results suggest that inactivation of p16 and the possibility of other unknown tumour suppressor genes located on other chromosomes could be involved in the pathogenesis of RCC.
authors.affiliation: Laboratory, Tumour Biology Department, Hospital Clínico, C/ Martín Lagos s/n, 28040 Madrid, Spain.
authors.forename: M T
authors.initials: MT
authors.lastname: Sanz-Casla
authors.forename: M L
authors.initials: ML
authors.lastname: Maestro
authors.forename: V
authors.initials: V
authors.lastname: del Barco
authors.forename: I
authors.initials: I
authors.lastname: Zanna
authors.forename: J
authors.initials: J
authors.lastname: Moreno
authors.forename: M
authors.initials: M
authors.lastname: Vidaurreta
authors.forename: I
authors.initials: I
authors.lastname: Almansa
authors.forename: C
authors.initials: C
authors.lastname: Fernández
authors.forename: J
authors.initials: J
authors.lastname: Blanco
authors.forename: C
authors.initials: C
authors.lastname: Maestro
authors.forename: L
authors.initials: L
authors.lastname: Resel
mesh_terms: D002292:Carcinoma, Renal Cell / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D019941:Cyclin-Dependent Kinase Inhibitor p16 / Q000235:genetics*; D019175:DNA Methylation; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics*; D019656:Loss of Heterozygosity; D011401:Promoter Regions, Genetic / Q000235:genetics
chemical_list: D019941:Cyclin-Dependent Kinase Inhibitor p16