PMID- 7923076 OWN - NLM STAT- MEDLINE DCOM- 19941116 LR - 20190816 IS - 0165-4608 (Print) IS - 0165-4608 (Linking) VI - 77 IP - 1 DP - 1994 Oct TI - Cytogenetic and fluorescence in situ hybridization studies on sporadic and hereditary tumors associated with von Hippel-Lindau syndrome (VHL). PG - 1-13 AB - 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. FAU - Decker, H J AU - Decker HJ AD - Molecular Neuro-Oncology Laboratory, Massachusetts General Hospital, Boston. FAU - Klauck, S M AU - Klauck SM FAU - Lawrence, J B AU - Lawrence JB FAU - McNeil, J AU - McNeil J FAU - Smith, D AU - Smith D FAU - Gemmill, R M AU - Gemmill RM FAU - Sandberg, A A AU - Sandberg AA FAU - Neumann, H H AU - Neumann HH FAU - Simon, B AU - Simon B FAU - Green, J AU - Green J AU - et al. LA - eng GR - CA 20051/CA/NCI NIH HHS/United States GR - CA-41183/CA/NCI NIH HHS/United States GR - R0I-CA 49455/CA/NCI NIH HHS/United States PT - Comparative Study PT - Journal Article PT - Research Support, Non-U.S. Gov't PT - Research Support, U.S. Gov't, P.H.S. PL - United States TA - Cancer Genet Cytogenet JT - Cancer genetics and cytogenetics JID - 7909240 SB - IM MH - Adrenal Gland Neoplasms/genetics MH - Angiomatosis/genetics MH - Carcinoma, Renal Cell/genetics MH - Cerebellar Neoplasms/genetics MH - *Chromosome Aberrations MH - Chromosome Deletion MH - *Chromosomes, Human, Pair 3 MH - Hemangioblastoma/genetics MH - Humans MH - *In Situ Hybridization, Fluorescence MH - Karyotyping MH - Kidney Neoplasms/genetics MH - Neoplastic Syndromes, Hereditary/*genetics MH - Pheochromocytoma/genetics MH - Polymorphism, Restriction Fragment Length MH - Retinal Diseases/genetics MH - Tumor Cells, Cultured MH - von Hippel-Lindau Disease/*genetics EDAT- 1994/10/01 00:00 MHDA- 1994/10/01 00:01 CRDT- 1994/10/01 00:00 PHST- 1994/10/01 00:00 [pubmed] PHST- 1994/10/01 00:01 [medline] PHST- 1994/10/01 00:00 [entrez] AID - 0165-4608(94)90141-4 [pii] AID - 10.1016/0165-4608(94)90141-4 [doi] PST - ppublish SO - Cancer Genet Cytogenet. 1994 Oct;77(1):1-13. doi: 10.1016/0165-4608(94)90141-4.