TY - JOUR
T1 - Cytogenetic and fluorescence in situ hybridization studies on sporadic and hereditary tumors associated with von Hippel-Lindau syndrome (VHL)
AU - Decker, Hans Joachim H.
AU - Klauck, Sabine M.
AU - Lawrence, Jeanne B.
AU - McNeil, John
AU - Smith, David
AU - Gemmill, Robert M.
AU - Sandberg, Avery A.
AU - Neumann, Hartmut H.P.
AU - Simon, Babette
AU - Green, Jane
AU - Seizinger, Bernd R.
N1 - Funding Information:
Financial support from the German Research Council (De 356/3-1 to H.J.H.D.), the National Institutes of Health (NIH&CA 20051 and an R:C:D:A:t o J.B.L.), the March of Dimes Foundation (Grant # 1-1227 to D.I.S.), and the National Cancer Institute (Grant R.O.I.-CA 49455 to B.R.S. and CA-41183 to A.A.S.) is gratefully acknowledged.
PY - 1994/10/1
Y1 - 1994/10/1
N2 - 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 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.
AB - 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 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.
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U2 - 10.1016/0165-4608(94)90141-4
DO - 10.1016/0165-4608(94)90141-4
M3 - Article
C2 - 7923076
AN - SCOPUS:0028030147
SN - 0165-4608
VL - 77
SP - 1
EP - 13
JO - Cancer Genetics and Cytogenetics
JF - Cancer Genetics and Cytogenetics
IS - 1
ER -