title: Cytogenetic and fluorescence in situ hybridization studies on sporadic and hereditary tumors associated with von Hippel-Lindau syndrome (VHL).
abstract: We performed cytogenetic and fluorescence in situ hybridization (FISH) studies on 29 sporadic or familial tumors associated with von Hippel-Lindau [correction of Landau] disease. Four of five renal cell carcinomas with detectable alterations showed clones with chromosome 3 alterations. These changes led to loss of genetic material visible with cytogenetic resolution: either an unbalanced translocation involving 3p or loss of a whole homolog 3, resulting in monosomy of 3p. We have previously mapped the VHL gene to chromosomal region 3p25-p26. We applied FISH using the single copy probes cA233 and cA479, sequences close to the VHL gene, in a search for submicroscopic deletions of 3p. Use of FISH with differentially labeled probes indicated cA479 to be distal to cA233, but both were located within bands 3p25-26. FISH with single copy probes for interphase cytogenetics detected four subclones with deletions in the VHL region in 8/22 tumors, including four tumors which appeared cytogenetically normal. FISH proved to be a powerful tool in tumor genetic studies, especially helpful in detecting tumor subclones in benign and slowly growing tumors.
authors.affiliation: Molecular Neuro-Oncology Laboratory, Massachusetts General Hospital, Boston.
authors.forename: H J
authors.initials: HJ
authors.lastname: Decker
authors.forename: S M
authors.initials: SM
authors.lastname: Klauck
authors.forename: J B
authors.initials: JB
authors.lastname: Lawrence
authors.forename: J
authors.initials: J
authors.lastname: McNeil
authors.forename: D
authors.initials: D
authors.lastname: Smith
authors.forename: R M
authors.initials: RM
authors.lastname: Gemmill
authors.forename: A A
authors.initials: AA
authors.lastname: Sandberg
authors.forename: H H
authors.initials: HH
authors.lastname: Neumann
authors.forename: B
authors.initials: B
authors.lastname: Simon
authors.forename: J
authors.initials: J
authors.lastname: Green
mesh_terms: D000310:Adrenal Gland Neoplasms / Q000235:genetics; D000798:Angiomatosis / Q000235:genetics; D002292:Carcinoma, Renal Cell / Q000235:genetics; D002528:Cerebellar Neoplasms / Q000235:genetics; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002893:Chromosomes, Human, Pair 3; D018325:Hemangioblastoma / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D007680:Kidney Neoplasms / Q000235:genetics; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics*; D010673:Pheochromocytoma / Q000235:genetics; D012150:Polymorphism, Restriction Fragment Length; D012164:Retinal Diseases / Q000235:genetics; D014407:Tumor Cells, Cultured; D006623:von Hippel-Lindau Disease / Q000235:genetics*