title: Cytogenetic and molecular studies of a familial renal cell carcinoma.
abstract: In a previously studied family with inherited renal cell carcinoma (RCC), RCC was shown to segregate with a constitutional balanced t(3;8)(p14.2;q24.1). In addition, we recently showed that in a RCC tumor from this family the constitutional translocation became unbalanced, suggesting a genetic mechanism that may be associated with the primary genetic events of tumorigenesis. We now report that the RCC tumor cells from this case showed additional cytogenetic alterations, possibly related to tumor progression, which include an additional tumor-specific translocation involving band 14 of chromosome 13. Because this band contains the retinoblastoma (RB) gene, we examined the tumor for aberrations in the RB gene using DNA sequence polymorphism analysis and pulsed-field gel electrophoresis (PFGE), but did not detect alterations in the RB gene.
authors.affiliation: Molecular Neuro-Oncology Laboratory, Massachusetts General Hospital, Boston.
authors.forename: H J
authors.initials: HJ
authors.lastname: Decker
authors.forename: B
authors.initials: B
authors.lastname: Wullich
authors.forename: J M
authors.initials: JM
authors.lastname: Whaley
authors.forename: G
authors.initials: G
authors.lastname: Herrera
authors.forename: S M
authors.initials: SM
authors.lastname: Klauck
authors.forename: A A
authors.initials: AA
authors.lastname: Sandberg
authors.forename: D W
authors.initials: DW
authors.lastname: Yandell
authors.forename: B R
authors.initials: BR
authors.lastname: Seizinger
mesh_terms: D000328:Adult; D001483:Base Sequence; D002292:Carcinoma, Renal Cell / Q000235:genetics*; D002882:Chromosomes, Human, Pair 13; D002885:Chromosomes, Human, Pair 16; D002893:Chromosomes, Human, Pair 3; D002898:Chromosomes, Human, Pair 8; D015342:DNA Probes; D016521:Electrophoresis, Gel, Pulsed-Field; D005260:Female; D016161:Genes, Retinoblastoma / Q000235:genetics; D006801:Humans; D017403:In Situ Hybridization; D008856:Microscopy, Fluorescence; D008969:Molecular Sequence Data; D014178:Translocation, Genetic; D014407:Tumor Cells, Cultured
chemical_list: D015342:DNA Probes