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Major role for a 3p21 region and lack of involvement of the t(3;8) breakpoint region in the development of renal cell carcinoma suggested by loss of heterozygosity analysis
Author(s) -
van den Berg Anke,
Hulsbeek Miriam M. F.,
de Jong Debora,
Kok Klaas,
Veldhuis Patrick M. J. F.,
Roche J.,
Buys Charles H. C. M.
Publication year - 1996
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/(sici)1098-2264(199601)15:1<64::aid-gcc9>3.0.co;2-2
Subject(s) - loss of heterozygosity , breakpoint , biology , allele , genetics , clear cell renal cell carcinoma , cancer research , renal cell carcinoma , chromosomal translocation , gene , pathology , medicine
In a loss of heterozygosity analysis of 3p, we examined 44 sporadic cases of renal cell carcinoma (RCC) and matched normal tissue with 18 markers distributed over the whole p‐arm. The majority of these markers clustered in three regions that have been suggested to be involved in the development of RCC, namely the p25 region, where the Von Hippel Lindau ( VHL ) gene is located; the p21 region, which has been identified as a common region of overlap (SRO) of heterozygous deletions; and the p14 region, which is the location of the constitutional t(3;8) breakpoint occurring in an RCC family. Thirty‐one out of these 44 tumors were analyzed with 9 additional markers from the 3p12‐14 region to further delimit the SRO in this region. Our analysis shows that when deletions were detected the 3p21 region was always included. The 3p21 markers D3F1552 and UBEIL were always contained within these 3p21 deletions. The t(3;8) breakpoint region showed the lowest percentage of loss of heterozygosity. Moreover, in three cases the t(3;8) breakpoint region retained heterozygosity, whereas a region more proximal to the breakpoint showed allelic losses. This supports exclusion of the t(3;8) region from a role in the development of sporadic RCC. In a number of tumors, two or three 3p regions with allelic losses were present separated by a region of retention of heterozygosity. In these tumors deletions at 3p21 occurred in combination with deletions of either the VHL region, or the region proximal to the t(3;8), or both, suggestive of multiple gene involvement in the development of sporadic RCC with a primary role of the 3p21 region. Genes Chromosom Cancer 14:00–00 (1995). © 1996 Wiley‐Liss, Inc.