Wilms'tumor with an apparently balanced translocation t(X; 18) resulting in deletion of the WTX gene

• Published in: Genes chromosomes & cancer Vol. 46; no. 10; pp. 909 - 913
• Main Authors: Han, Moonjoo, Rivera, Miguel N, Batten, Julie M, Haber, Daniel A, Cin, Paola Dal, Iafrate, A John
• Format: Journal Article
• Language: English
• Published: 01.10.2007
• DOI: 10.1002/gcc.20476
• ISSN: 1045-2257

The recent description of a new X chromosome tumor suppressor gene, WTX, that is commonly inactivated in Wilms'tumor prompted us to examine the possible involvement of WTX in a case of Wilms'tumor containing an apparently balanced reciprocal translocation between chromosomes X and 18 (t(X; 18)(q11; p11)). Fluorescence in situ hybridization (FISH) analysis of paraffin tumor sections indeed revealed a deletion of the WTX locus at Xq11. High-resolution array comparative genomic hybridization (array CGH) analysis of tumor DNA revealed a 1.5 Mb chromosome deletion encompassing the WTX gene at Xq11. No loss of genetic material was detected on chromosome 18. Interestingly, unlike most tumors with acquired chromosomal translocations, where a new fusion oncogene or promoter-oncogene fusion is created and drives tumor growth, the t(X; 18) in this tumor appears to drive tumorigenesis via deletion of a tumor suppressor. This case demonstrates the importance of array CGH and FISH as adjuncts in tumor cytogenetics and in identifying pathogenic microdeletions in balanced translocations that are not truly balanced.