34. De novo constitutional PATRR-mediated t(3;8) balanced translocation associated with clear cell renal cell carcinoma

Our study describes a 33-year old male diagnosed with bilateral clear cell renal cell carcinoma (ccRCC) (8 primary tumors) who harbors a de novo constitutional Palindromic Adenine and Thymine Rich Repeat (PATRR)- mediated t(3;8) balanced translocation validated by spectral karyotyping. No germline or somatic pathogenic alterations were detected in VHL gene suggesting that his phenotype is not associated with Von Hippel-Lindau syndrome. Of note, there is no history of cancer in the family. We determined the chromosome 3 breakpoint to be located in an AT-rich palindromic sequence in the third intron of FHIT gene, member of the fragile histidine triad family, and the chromosome 8 breakpoint in the first intron of TRC8 gene, a E3 ubiquitin ligase which regulates cholesterol and lipid biosynthesis.

Source: Cancer Genetics and Cytogenetics - May 31, 2020 Category: Genetics & Stem Cells Authors: Marilena Melas, Kevin J. McDonnell, Christopher Edlund, Sarah Correll Tash, Duveen Sturgeon, Charalampos Lazaris, Chenxu Qu, Peter J. Gruber, Thomas W. Glover, Beverly S. Emanuel, Stephen B. Gruber Source Type: research