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Molecular analysis of a familial case of renal cell cancer and a t(3;6)(q12;q15)
Author(s) -
Eleveld Marc J.,
Bodmer Daniëlle,
Merkx Gerard,
Siepman Angélique,
Sprenger Sandra H. E.,
Weterman Marian A. J.,
Ligtenberg Marjolijn J.,
Kamp Jorieke,
Stapper Wim,
Jeuken Judith W. M.,
Smeets Dominique,
Smits Arie,
Geurts van Kessel Ad
Publication year - 2001
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/gcc.1114
Subject(s) - chromosomal translocation , mutation , chromosome , cancer , biology , gene , genetics , concomitant , chromosome 3 , cytogenetics , cancer research , gene mutation , pathology , microbiology and biotechnology , medicine
Abstract We identified a novel familial case of clear‐cell renal cancer and a t(3;6)(q12;q15). Subsequent cytogenetic and molecular analyses showed the presence of several abnormalities within tumour samples obtained from different patients. Loss of the der(3) chromosome was noted in some, but not all, of the samples. A concomitant VHL gene mutation was found in one of the samples. In addition, cytogenetic and molecular evidence for heterogeneity was obtained through analysis of several biopsy samples from one of the tumours. Based on these results and those reported in the literature, we conclude that loss of der(3) and subsequent VHL gene mutation may represent critical steps in the development of renal cell cancers in persons carrying the chromosome 3 translocation. Moreover, preliminary data suggest that other (epi)genetic changes may be related to tumour initiation. © 2001 Wiley‐Liss, Inc.