Cytogenetic and fluorescence in situ hybridization studies on sporadic and hereditary tumors associated with von Hippel-Lindau syndrome (VHL)

摘要: Abstract We performed cytogenetic and fluorescence in situ hybridization (FISH) studies on 29 sporadic or familial tumors associated with von Hippel-Landau disease. Four of five renal cell carcinomas detectable alterations showed clones chromosome 3 alterations. These changes led to loss genetic material visible resolution: either an unbalanced translocation involving 3p a whole homolog 3, resulting monosomy 3p. have previously mapped the VHL gene chromosomal region 3p25–p26. applied FISH using single copy probes cA233 cA479, sequences close gene, search for submicroscopic deletions Use differentially labeled indicated cA479 be distal cA233, but both were located within bands 3p25–26. interphase cytogenetics detected four subclones 8 22 tumors, including which appeared cytogenetically normal. proved powerful tool tumor studies, especially helpful detecting benign slowly growing tumors.